The genetic landscape of the epileptic encephalopathies of infancy and childhood
Summary Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical...
Saved in:
| Published in | Lancet neurology Vol. 15; no. 3; pp. 304 - 316 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
01.03.2016
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Summary Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders. |
|---|---|
| AbstractList | Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders. Summary Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders. |
| Author | Cross, J Helen, Prof Scheffer, Ingrid E, Prof McTague, Amy, MBChB Kurian, Manju A, PhD Howell, Katherine B, MBBS |
| Author_xml | – sequence: 1 fullname: McTague, Amy, MBChB – sequence: 2 fullname: Howell, Katherine B, MBBS – sequence: 3 fullname: Cross, J Helen, Prof – sequence: 4 fullname: Kurian, Manju A, PhD – sequence: 5 fullname: Scheffer, Ingrid E, Prof |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26597089$$D View this record in MEDLINE/PubMed |
| BookMark | eNqFkEtLJDEURoMovn-CQ8FsdFGaR6UemxERXyAo2K5D-ubWVJzqpKZSLfS_N9XdtuDGTRKSc7-bew7ItvMOCTlh9JxRll-8sKzI0izj_JTJM0q5pCnbIvvr61xub86c75GDEN4ixLKS7ZI9nsuqoGW1T54nDSZ_0eFgIWm1MwF0h4mvkyE-YGdb7MYndIBdo1vf6aGxGEbCulo7WCSxKoHGtqbx3hyRnVq3AY_X-yF5vb2ZXN-nj093D9dXjynIPB_SjMf2RU2hREFNZYBW06lmWpd1KXIUUhrEqgRRCpS6FDUUyE2hGdUV1NVUHJLTVW7X-_9zDIOa2QDYxhnQz4NiRV7QOKOgEf39DX3z897F342UlEUV10jJFQW9D6HHWnW9nel-oRhVo3K1VK5Gn4pJtVSuWKz7tU6fT2doNlWfjiNwuQIw6ni32KsAdvRpbI8wKOPtjy3-fEuA1joLuv2HCwxf06jAFV2FjBlMLhOY-ABPH6af |
| CODEN | LANCAO |
| CitedBy_id | crossref_primary_10_1001_jamaneurol_2018_2941 crossref_primary_10_1016_j_ejpn_2018_02_006 crossref_primary_10_1212_WNL_0000000000004262 crossref_primary_10_1111_dmcn_14203 crossref_primary_10_1016_S1474_4422_22_00002_3 crossref_primary_10_1242_dmm_042515 crossref_primary_10_1111_epi_16957 crossref_primary_10_1111_cge_14519 crossref_primary_10_2147_JMDH_S251860 crossref_primary_10_1016_j_neulet_2017_05_014 crossref_primary_10_3389_fgene_2020_00061 crossref_primary_10_3389_fped_2022_965282 crossref_primary_10_1177_15357597221082485 crossref_primary_10_3390_neurolint13040055 crossref_primary_10_1007_s10309_016_0102_1 crossref_primary_10_1111_epi_16701 crossref_primary_10_3389_fped_2023_1266376 crossref_primary_10_1002_ajmg_a_63074 crossref_primary_10_1016_j_yebeh_2020_107654 crossref_primary_10_1038_s41467_019_10482_9 crossref_primary_10_1016_j_seizure_2024_06_013 crossref_primary_10_1096_fj_202001113R crossref_primary_10_1177_0883073817696814 crossref_primary_10_3390_ijms241914606 crossref_primary_10_3390_children7010005 crossref_primary_10_1002_mgg3_355 crossref_primary_10_1016_j_yebeh_2023_109530 crossref_primary_10_1111_epi_16810 crossref_primary_10_1111_epi_13422 crossref_primary_10_1111_dmcn_14428 crossref_primary_10_1016_j_pediatrneurol_2020_12_001 crossref_primary_10_1016_j_yebeh_2024_109804 crossref_primary_10_12688_f1000research_21366_1 crossref_primary_10_1093_brain_awz318 crossref_primary_10_1016_S0140_6736_19_31239_5 crossref_primary_10_1111_epi_14503 crossref_primary_10_1111_epi_16924 crossref_primary_10_1016_j_ejpn_2019_12_005 crossref_primary_10_1016_j_ymgme_2017_06_009 crossref_primary_10_1016_j_ejpn_2019_12_002 crossref_primary_10_1016_j_eplepsyres_2019_106181 crossref_primary_10_1177_17562864221108012 crossref_primary_10_1016_j_jbc_2021_101355 crossref_primary_10_3389_fnmol_2021_699574 crossref_primary_10_1093_brain_aww272 crossref_primary_10_1016_j_paed_2018_07_008 crossref_primary_10_1016_j_yebeh_2024_109817 crossref_primary_10_1016_j_eplepsyres_2016_11_022 crossref_primary_10_3390_ijms22084202 crossref_primary_10_1080_14728222_2017_1386175 crossref_primary_10_1016_j_ymthe_2020_04_007 crossref_primary_10_3389_fgene_2021_738561 crossref_primary_10_1016_j_seizure_2020_06_024 crossref_primary_10_1016_j_yebeh_2019_07_029 crossref_primary_10_1242_dmm_040782 crossref_primary_10_1016_j_ajhg_2016_06_003 crossref_primary_10_1212_WNL_0000000000004331 crossref_primary_10_1038_nrneurol_2017_30 crossref_primary_10_4236_jbm_2024_123007 crossref_primary_10_1007_s13311_021_01054_1 crossref_primary_10_1016_j_yebeh_2021_107961 crossref_primary_10_12956_tchd_727161 crossref_primary_10_1007_s10309_018_0218_6 crossref_primary_10_1242_bio_058896 crossref_primary_10_31686_ijier_vol10_iss10_3965 crossref_primary_10_1212_WNL_0000000000201492 crossref_primary_10_1097_WCO_0000000000000535 crossref_primary_10_1186_s40246_021_00309_4 crossref_primary_10_1093_hmg_ddab298 crossref_primary_10_1002_humu_23690 crossref_primary_10_1016_j_ajhg_2020_10_017 crossref_primary_10_1016_j_braindev_2020_02_004 crossref_primary_10_1002_epi4_12899 crossref_primary_10_1016_j_ejpn_2022_11_004 crossref_primary_10_1016_j_chc_2020_02_002 crossref_primary_10_3389_fneur_2022_944905 crossref_primary_10_1016_j_ejmg_2022_104531 crossref_primary_10_1016_j_neuroscience_2020_01_041 crossref_primary_10_1080_14737175_2020_1713101 crossref_primary_10_1080_14737175_2022_2105698 crossref_primary_10_1093_hmg_ddw157 crossref_primary_10_1016_j_ejpn_2020_01_006 crossref_primary_10_1159_000481793 crossref_primary_10_1007_s40265_019_01223_9 crossref_primary_10_1093_braincomms_fcae090 crossref_primary_10_1055_s_0041_1728688 crossref_primary_10_1186_s41983_021_00269_5 crossref_primary_10_1016_j_yebeh_2020_107322 crossref_primary_10_1016_j_seizure_2019_10_019 crossref_primary_10_1080_01677063_2018_1513509 crossref_primary_10_1016_j_hsr_2022_100062 crossref_primary_10_1016_j_seizure_2019_04_018 crossref_primary_10_1016_j_seizure_2021_02_001 crossref_primary_10_1016_j_spen_2018_04_001 crossref_primary_10_1021_acs_jmedchem_4c00268 crossref_primary_10_1002_ana_25619 crossref_primary_10_1515_medgen_2022_2145 crossref_primary_10_1111_dmcn_15308 crossref_primary_10_26815_acn_2022_00045 crossref_primary_10_1111_gbb_12492 crossref_primary_10_3389_fpsyt_2021_686021 crossref_primary_10_1007_s00115_019_0749_8 crossref_primary_10_1016_j_yebeh_2017_12_020 crossref_primary_10_1038_s41598_019_42191_0 crossref_primary_10_1177_1550059420909673 crossref_primary_10_1111_epi_16679 crossref_primary_10_1002_humu_23915 crossref_primary_10_1016_S1634_7072_18_41286_X crossref_primary_10_1055_s_0040_1719070 crossref_primary_10_3389_fgene_2023_1300952 crossref_primary_10_3390_diagnostics11060948 crossref_primary_10_1177_00368504221131233 crossref_primary_10_1016_j_ejpn_2019_02_003 crossref_primary_10_1136_pn_2022_003623 crossref_primary_10_1016_j_ajhg_2022_11_002 crossref_primary_10_3390_genes13030500 crossref_primary_10_1016_j_lfs_2023_122378 crossref_primary_10_1007_s40142_018_0139_8 crossref_primary_10_1016_j_seizure_2023_06_005 crossref_primary_10_1002_acn3_50824 crossref_primary_10_1016_j_seizure_2023_06_009 crossref_primary_10_1016_j_yebeh_2020_107021 crossref_primary_10_1016_j_yebeh_2020_107382 crossref_primary_10_1016_j_ajhg_2016_10_009 crossref_primary_10_1111_epi_16427 crossref_primary_10_1111_epi_16789 crossref_primary_10_1007_s40291_017_0257_0 crossref_primary_10_1016_S1474_4422_19_30269_8 crossref_primary_10_1093_brain_awx184 crossref_primary_10_3389_fneur_2019_00505 crossref_primary_10_1093_brain_awz123 crossref_primary_10_3389_fnins_2023_1140679 crossref_primary_10_1212_WNL_0000000000003565 crossref_primary_10_1021_acschemneuro_0c00583 crossref_primary_10_1038_s41598_018_28127_0 crossref_primary_10_1684_epd_2021_1343 crossref_primary_10_1002_ajmg_a_62969 crossref_primary_10_3389_fneur_2024_1305404 crossref_primary_10_1016_j_celrep_2017_09_088 crossref_primary_10_1016_j_ebiom_2021_103588 crossref_primary_10_1038_s41598_017_00208_6 crossref_primary_10_1007_s10072_020_04619_8 crossref_primary_10_1111_cge_13926 crossref_primary_10_3389_fgene_2021_717535 crossref_primary_10_1093_brain_awab409 crossref_primary_10_1038_s41598_022_13974_9 crossref_primary_10_1002_epi4_12055 crossref_primary_10_3390_ijms23094879 crossref_primary_10_17724_jicna_2019_158 crossref_primary_10_3390_biomedicines8100395 crossref_primary_10_1111_jpc_14398 crossref_primary_10_1055_s_0040_1722288 crossref_primary_10_1038_s41588_018_0143_7 crossref_primary_10_1016_j_ajhg_2018_09_006 crossref_primary_10_3389_fneur_2022_1036846 crossref_primary_10_1007_s10309_018_0238_2 crossref_primary_10_1242_dmm_047449 crossref_primary_10_1055_s_0040_1712488 crossref_primary_10_55230_mabjournal_v51i4_14 crossref_primary_10_1002_mgg3_1991 crossref_primary_10_1111_jir_12556 crossref_primary_10_1111_epi_17841 crossref_primary_10_1007_s00115_017_0427_7 crossref_primary_10_1016_j_jpeds_2017_01_050 crossref_primary_10_1111_dmcn_14407 crossref_primary_10_1684_epd_2021_1394 crossref_primary_10_1093_brain_awy246 crossref_primary_10_1073_pnas_2021265118 crossref_primary_10_3389_fneur_2021_633637 crossref_primary_10_1093_brain_awaa371 crossref_primary_10_1186_s12920_020_00801_1 crossref_primary_10_1016_j_neuropharm_2021_108805 crossref_primary_10_1212_WNL_0000000000207080 crossref_primary_10_1038_s41467_020_14360_7 crossref_primary_10_2174_1874205X_v16_e2203290 crossref_primary_10_5483_BMBRep_2019_52_5_097 crossref_primary_10_1038_s41467_018_07524_z crossref_primary_10_1016_S2352_4642_19_30425_0 crossref_primary_10_1002_epi4_12263 crossref_primary_10_1080_01616412_2021_1932173 crossref_primary_10_1016_j_ajhg_2021_04_009 crossref_primary_10_1002_acn3_50998 crossref_primary_10_1684_epd_2018_1005 crossref_primary_10_1016_j_nbd_2023_106104 crossref_primary_10_1007_s40272_019_00341_x crossref_primary_10_1007_s12264_019_00400_w crossref_primary_10_1159_000448369 crossref_primary_10_3389_fnmol_2022_891621 crossref_primary_10_1016_j_celrep_2021_108946 crossref_primary_10_1093_brain_awz232 crossref_primary_10_1177_15357597211038180 crossref_primary_10_1684_epd_2021_1255 crossref_primary_10_1111_dmcn_14971 crossref_primary_10_1016_j_yebeh_2016_10_023 crossref_primary_10_1124_pr_117_014456 crossref_primary_10_1016_j_cca_2021_08_030 crossref_primary_10_3389_fneur_2022_826211 crossref_primary_10_1016_j_ajhg_2020_02_015 crossref_primary_10_1177_11795735211048045 crossref_primary_10_3389_fphar_2021_788192 crossref_primary_10_1016_j_seizure_2023_01_014 crossref_primary_10_1007_s13760_020_01513_0 crossref_primary_10_3389_fgene_2019_00605 crossref_primary_10_1172_jci_insight_146090 crossref_primary_10_1093_braincomms_fcaa028 crossref_primary_10_1080_23808993_2018_1486189 crossref_primary_10_1371_journal_pone_0252475 crossref_primary_10_1111_jpc_16186 crossref_primary_10_1016_j_seizure_2019_07_019 crossref_primary_10_1152_physrev_00063_2021 crossref_primary_10_1016_j_seizure_2018_05_005 crossref_primary_10_1093_braincomms_fcab235 crossref_primary_10_1093_brain_awaa171 crossref_primary_10_1111_epi_14087 crossref_primary_10_1016_j_cmpb_2023_107836 crossref_primary_10_1007_s00424_020_02384_3 crossref_primary_10_15252_emmm_202013610 crossref_primary_10_1111_epi_17114 crossref_primary_10_3390_jcm9113724 crossref_primary_10_1016_j_pediatrneurol_2020_01_005 crossref_primary_10_1146_annurev_pharmtox_052120_084449 crossref_primary_10_1016_j_eplepsyres_2020_106398 crossref_primary_10_1016_j_perped_2022_04_009 crossref_primary_10_3389_fneur_2018_00276 crossref_primary_10_1007_s00439_017_1850_3 crossref_primary_10_3390_ijms20153621 crossref_primary_10_1016_j_seizure_2021_12_004 crossref_primary_10_1111_epi_14077 crossref_primary_10_1038_nrdp_2018_24 crossref_primary_10_1016_j_psc_2020_11_005 crossref_primary_10_1016_j_seizure_2022_07_019 crossref_primary_10_1016_j_nbd_2021_105529 crossref_primary_10_1093_brain_awab369 crossref_primary_10_3390_jpm10040281 crossref_primary_10_1111_dmcn_15187 crossref_primary_10_1038_s10038_019_0661_x crossref_primary_10_1016_j_ijdevneu_2019_10_003 crossref_primary_10_1007_s13311_022_01264_1 crossref_primary_10_3389_fped_2021_635703 crossref_primary_10_1016_S1474_4422_23_00246_6 crossref_primary_10_3389_fneur_2021_639994 crossref_primary_10_1002_ccr3_5688 crossref_primary_10_1007_s40124_018_0171_x crossref_primary_10_1093_brain_awaa029 crossref_primary_10_30565_medalanya_891938 crossref_primary_10_1016_j_ajhg_2019_02_016 crossref_primary_10_1016_j_eplepsyres_2019_03_001 crossref_primary_10_1080_23808993_2020_1732203 crossref_primary_10_1002_ana_25032 crossref_primary_10_1186_s12881_017_0466_8 crossref_primary_10_1016_j_eplepsyres_2018_08_008 crossref_primary_10_3390_genes12050731 crossref_primary_10_1016_j_seizure_2020_12_023 crossref_primary_10_1002_ajmg_a_62741 crossref_primary_10_1016_j_eplepsyres_2024_107341 crossref_primary_10_1016_j_ppedcard_2017_02_005 crossref_primary_10_1055_a_1915_9895 crossref_primary_10_1016_j_brainresbull_2021_02_010 crossref_primary_10_1111_cge_13061 crossref_primary_10_1016_j_neuron_2020_10_012 crossref_primary_10_1093_brain_awac274 crossref_primary_10_1001_jamanetworkopen_2023_24380 crossref_primary_10_1093_braincomms_fcab280 crossref_primary_10_3390_children10030556 crossref_primary_10_18231_j_ijn_2022_004 crossref_primary_10_1007_s13311_021_01137_z crossref_primary_10_1093_brain_awz292 crossref_primary_10_1111_jnc_14134 crossref_primary_10_3389_fneur_2022_831899 crossref_primary_10_1007_s10048_019_00598_x crossref_primary_10_1016_j_neuroscience_2020_05_032 crossref_primary_10_36927_2079_0325_V29_is4_2021_7 crossref_primary_10_5213_inj_2142166_083 crossref_primary_10_1093_brain_awad111 crossref_primary_10_3390_ijms25021146 crossref_primary_10_1016_j_ajhg_2019_03_005 crossref_primary_10_1177_1550059420953735 crossref_primary_10_1016_j_eplepsyres_2018_02_003 crossref_primary_10_1111_epi_17780 crossref_primary_10_3390_genes12071051 crossref_primary_10_1111_epi_17542 crossref_primary_10_3390_children10091442 crossref_primary_10_1016_j_ynirp_2021_100023 crossref_primary_10_1016_S0140_6736_18_32596_0 crossref_primary_10_1080_01616412_2023_2170917 crossref_primary_10_1002_epi4_5 crossref_primary_10_1038_s41467_021_22389_5 crossref_primary_10_1093_brain_awac376 crossref_primary_10_1016_j_spen_2016_11_009 crossref_primary_10_3390_children6020023 crossref_primary_10_1001_jamanetworkopen_2019_2129 crossref_primary_10_1093_cercor_bhx027 crossref_primary_10_3389_fnmol_2018_00458 crossref_primary_10_1002_mgg3_1689 crossref_primary_10_1093_genetics_iyae085 crossref_primary_10_1111_dmcn_13926 crossref_primary_10_1002_ana_26147 crossref_primary_10_1016_j_spen_2017_08_008 crossref_primary_10_4103_0028_3886_336325 crossref_primary_10_3390_cells11142135 crossref_primary_10_1002_ajmg_a_40357 crossref_primary_10_1007_s12035_017_0483_9 crossref_primary_10_1111_epi_13965 crossref_primary_10_1038_ejhg_2017_52 crossref_primary_10_1016_j_yebeh_2024_109670 crossref_primary_10_1002_ajmg_b_32821 crossref_primary_10_1177_26330040241254123 crossref_primary_10_1111_cge_13144 crossref_primary_10_15252_emmm_202217159 crossref_primary_10_1016_j_yebeh_2018_10_016 crossref_primary_10_3805_jjes_37_6 crossref_primary_10_1016_j_paed_2017_03_010 crossref_primary_10_1002_humu_24326 crossref_primary_10_1007_s11011_020_00635_x crossref_primary_10_1111_dmcn_13184 crossref_primary_10_1111_jnc_15947 crossref_primary_10_3390_ijms23179683 crossref_primary_10_1002_epi4_12747 crossref_primary_10_1002_mgg3_2354 crossref_primary_10_1007_s10072_020_04898_1 crossref_primary_10_1038_s41401_023_01115_5 crossref_primary_10_1371_journal_pgen_1010952 crossref_primary_10_1111_epi_13957 crossref_primary_10_1177_1535759720906118 crossref_primary_10_1523_JNEUROSCI_2205_22_2023 crossref_primary_10_1016_j_yebeh_2018_10_031 crossref_primary_10_1212_WNL_0000000000207808 crossref_primary_10_3390_genes15030266 crossref_primary_10_1016_j_xhgg_2022_100131 crossref_primary_10_53126_MEB41033 crossref_primary_10_3390_children9081105 crossref_primary_10_1016_j_yebeh_2023_109139 crossref_primary_10_1016_j_neuropharm_2019_107854 crossref_primary_10_1212_WNL_0000000000006381 crossref_primary_10_1002_acn3_51003 crossref_primary_10_1016_j_seizure_2020_12_008 crossref_primary_10_1111_epi_13709 crossref_primary_10_3389_fgene_2021_783841 crossref_primary_10_1111_jnc_15836 crossref_primary_10_1016_j_phrs_2020_105200 crossref_primary_10_1016_j_ymgmr_2022_100924 crossref_primary_10_1007_s12031_022_02001_1 crossref_primary_10_1093_brain_awac053 crossref_primary_10_1111_gbb_12456 crossref_primary_10_1177_1535759719870506 crossref_primary_10_1186_s11689_017_9202_0 crossref_primary_10_1007_s12098_020_03554_y crossref_primary_10_1016_j_nbd_2023_106094 crossref_primary_10_1016_j_ajhg_2019_04_001 crossref_primary_10_3390_ijms232416130 crossref_primary_10_1002_epd2_20220 crossref_primary_10_1097_WCO_0000000000000793 crossref_primary_10_1007_s11427_022_2313_1 crossref_primary_10_1038_cr_2017_135 crossref_primary_10_5858_arpa_2020_0164_RA crossref_primary_10_1016_j_ebr_2023_100634 crossref_primary_10_3389_fneur_2023_1218706 crossref_primary_10_1016_j_jns_2021_117515 crossref_primary_10_1038_s41582_022_00727_5 crossref_primary_10_15844_pedneurbriefs_29_11_3 crossref_primary_10_1007_s12098_020_03279_y crossref_primary_10_1055_s_0041_1727097 crossref_primary_10_1002_ajmg_a_62455 crossref_primary_10_1016_j_neuropharm_2019_107702 crossref_primary_10_1016_j_pediatrneurol_2016_06_008 crossref_primary_10_1177_1535759719879418 crossref_primary_10_1113_JP282536 crossref_primary_10_1016_j_cppeds_2024_101579 crossref_primary_10_1007_s12035_021_02291_3 crossref_primary_10_1080_14737175_2021_1992275 crossref_primary_10_1016_j_ajhg_2019_05_020 crossref_primary_10_1111_brv_12383 crossref_primary_10_1002_ana_26546 crossref_primary_10_1016_j_ajhg_2018_03_005 crossref_primary_10_1111_nan_12409 crossref_primary_10_1146_annurev_genom_120219_074937 crossref_primary_10_1111_cge_13441 crossref_primary_10_1016_j_pharmthera_2020_107785 crossref_primary_10_1007_s13311_021_01133_3 crossref_primary_10_1186_s13052_019_0765_0 crossref_primary_10_1038_s41588_023_01485_w crossref_primary_10_1007_s10309_021_00409_0 crossref_primary_10_1111_dmcn_15140 crossref_primary_10_1016_j_nbd_2020_105141 crossref_primary_10_1111_epi_17015 crossref_primary_10_1007_s00415_019_09404_y crossref_primary_10_1007_s10072_018_3528_6 crossref_primary_10_1212_WNL_0000000000207973 crossref_primary_10_1007_s00401_019_02109_6 |
| Cites_doi | 10.1212/01.wnl.0000435296.72400.a1 10.1186/gb-2011-12-9-227 10.1212/WNL.0b013e31820c309b 10.1016/S0896-6273(00)00116-1 10.1038/nn1754 10.1093/brain/awr129 10.1001/jamadermatol.2013.8895 10.1093/brain/awt073 10.1038/ng0198-25 10.1002/ana.23897 10.1002/humu.21288 10.1111/epi.12046 10.1002/humu.10310 10.1111/j.1528-1157.1990.tb05494.x 10.1038/ng.2441 10.1111/j.1528-1157.1995.tb00961.x 10.1111/epi.12927 10.1111/j.1528-1167.2011.03177.x 10.1038/ng.2728 10.1016/j.eplepsyres.2011.03.005 10.1111/j.1469-8749.2009.03470.x 10.1126/science.1230473 10.1212/WNL.0b013e3182a43e57 10.1046/j.1528-1157.2001.042007837.x 10.1093/eurheartj/eht067 10.1038/ejhg.2009.139 10.1016/j.ajhg.2014.08.013 10.1038/ng.2646 10.1038/ng.2727 10.1002/ana.22645 10.1056/NEJMoa1314432 10.1111/j.1528-1167.2008.01652.x 10.1111/epi.12200 10.1371/journal.pone.0102079 10.1371/journal.pgen.1000649 10.1038/sj.mp.4001241 10.1111/j.1528-1167.2010.02695.x 10.1016/j.eplepsyres.2011.03.009 10.1371/journal.pgen.1000381 10.1093/hmg/ddu030 10.1002/ana.24073 10.1016/j.nbd.2012.12.021 10.1016/j.ajhg.2013.07.014 10.1038/ng.2726 10.1038/nature12439 10.1111/epi.12201 10.1093/hmg/ddu199 10.1001/archneur.1980.00500500077012 10.1002/ana.24520 10.1126/science.1237758 10.1016/S0140-6736(11)60756-3 10.1016/j.eplepsyres.2013.03.012 10.1038/ng.2329 10.1515/revneuro-2014-0062 10.3389/fnmol.2014.00006 10.1111/j.1528-1167.2006.00645.x 10.1016/j.eplepsyres.2011.02.007 10.1111/j.1528-1167.2011.03007.x 10.1086/320609 10.1038/ejhg.2011.121 10.1038/nature07517 10.1016/j.ajhg.2008.12.014 10.1038/ng1009 10.1038/ng862 10.1002/ana.24229 10.1002/ana.24128 10.1038/ncomms4847 10.1016/j.yebeh.2014.02.005 10.1056/NEJMoa0910752 10.1016/j.nbd.2012.06.013 10.1093/brain/awm002 10.1073/pnas.1216867110 10.1111/epi.13071 10.1111/j.1528-1167.2012.03516.x 10.1111/epi.13072 10.1136/jmg.2009.074328 10.1111/j.1528-1167.2012.03548.x 10.1038/nchem.1568 10.1038/gim.2014.23 10.1002/humu.9419 10.1001/archneurol.2011.102 10.1016/S0140-6736(12)61480-9 10.1016/j.ajhg.2015.02.016 10.1038/nrneurol.2014.43 10.1111/epi.12137 10.1002/acn3.39 10.1111/cge.12272 10.1177/088307389100600412 10.1038/ng.150 10.1002/ana.24080 10.1016/j.neuron.2012.03.010 10.1038/ng.2440 10.1016/j.celrep.2014.07.043 10.1212/WNL.0000000000001926 10.1002/ana.22644 10.1016/j.braindev.2009.01.001 10.1111/j.1528-1167.2010.02522.x 10.1212/WNL.0000000000000291 10.1016/S1474-4422(14)70040-7 10.1111/dmcn.12030 10.1126/scitranslmed.3004190 10.1212/WNL.0000000000001305 10.1038/nn.3933 10.1111/j.1528-1167.2006.00675.x 10.1111/j.1469-8749.2011.04214.x |
| ContentType | Journal Article |
| Copyright | Elsevier Ltd 2016 Elsevier Ltd Copyright © 2016 Elsevier Ltd. All rights reserved. Copyright Elsevier Limited Mar 2016 |
| Copyright_xml | – notice: Elsevier Ltd – notice: 2016 Elsevier Ltd – notice: Copyright © 2016 Elsevier Ltd. All rights reserved. – notice: Copyright Elsevier Limited Mar 2016 |
| DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 0TZ 3V. 7RV 7TK 7X7 7XB 88E 88G 8AO 8C2 8FI 8FJ 8FK ABUWG AFKRA AZQEC BENPR CCPQU DWQXO FYUFA GHDGH GNUQQ K9. KB0 M0S M1P M2M NAPCQ PQEST PQQKQ PQUKI PRINS PSYQQ Q9U 7X8 |
| DOI | 10.1016/S1474-4422(15)00250-1 |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Pharma and Biotech Premium PRO ProQuest Central (Corporate) Nursing & Allied Health Database (ProQuest) Neurosciences Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Psychology Database (Alumni) ProQuest Pharma Collection Lancet Titles Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central ProQuest Central Essentials AUTh Library subscriptions: ProQuest Central ProQuest One Community College ProQuest Central Korea Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Database (Alumni Edition) Health & Medical Collection (Alumni Edition) Medical Database Psychology Database Nursing & Allied Health Premium ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic MEDLINE - Academic |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef ProQuest One Psychology Pharma and Biotech Premium PRO ProQuest Central Student ProQuest Central Essentials Lancet Titles ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest Pharma Collection ProQuest Central China ProQuest Central Health Research Premium Collection Health and Medicine Complete (Alumni Edition) ProQuest Central Korea ProQuest Medical Library (Alumni) ProQuest Central Basic ProQuest One Academic Eastern Edition ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Psychology Journals (Alumni) Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest One Academic UKI Edition ProQuest Nursing & Allied Health Source (Alumni) ProQuest One Academic ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | ProQuest One Psychology MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1474-4465 |
| EndPage | 316 |
| ExternalDocumentID | 3954841311 10_1016_S1474_4422_15_00250_1 26597089 S1474442215002501 1_s2_0_S1474442215002501 |
| Genre | Research Support, Non-U.S. Gov't Journal Article Review |
| GrantInformation_xml | – fundername: Medical Research Council grantid: MR/L001497/1 – fundername: Wellcome Trust |
| GroupedDBID | --- --K --M -RU .1- .FO 0R~ 123 1B1 1P~ 1~5 29L 3V. 4.4 457 4G. 53G 5VS 7-5 71M 7RV 7X7 88E 8AO 8C2 8FI 8FJ AACTN AAEDT AAEDW AAIKJ AAKOC AALRI AAMRU AAQFI AAQQT AAXKI AAXLA AAXUO ABBQC ABCQJ ABIVO ABJNI ABMAC ABMZM ABOCM ABTEW ABUWG ACGFS ACPRK ACRLP ADBBV ADMUD AEKER AENEX AEVXI AFCTW AFKRA AFKWA AFRHN AFTJW AFXIZ AGHFR AGWIK AHMBA AITUG AJOXV AJRQY AJUYK AKRWK ALIPV ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ANZVX AXJTR AZQEC BENPR BKEYQ BKOJK BNPGV BPHCQ BVXVI CCPQU CS3 DU5 DWQXO EBS EFJIC EJD EO8 EO9 EP2 EP3 EX3 F5P FDB FEDTE FIRID FNPLU FYGXN FYUFA G-Q GBLVA GNUQQ HF~ HVGLF HZ~ IHE J1W JCF KOM M1P M2M M41 MO0 N9A NAPCQ O-L O9- OP~ OZT P-8 P-9 P2P PC. PQQKQ PROAC PSQYO PSYQQ RIG ROL RPZ SDF SDG SEL SES SPCBC SSH SSN SSZ T5K TLN UHS UV1 WOW XBR Z5R AADPK ABLVK ABYKQ AJBFU HMCUK UKHRP ZA5 CGR CUY CVF ECM EIF NPM AAYXX ACRPL ADNMO CITATION 0TZ 7TK 7XB 8FK K9. PQEST PQUKI PRINS Q9U 7X8 |
| ID | FETCH-LOGICAL-c566t-420897f0c8e30d9dc09bba1aa8f836e355dee98c383e5a83fc7e2d7a10a9cf9b3 |
| IEDL.DBID | 7X7 |
| ISSN | 1474-4422 |
| IngestDate | Wed Dec 04 02:18:05 EST 2024 Tue Nov 19 05:30:39 EST 2024 Fri Dec 06 00:57:14 EST 2024 Sat Sep 28 08:29:43 EDT 2024 Fri Feb 23 02:29:00 EST 2024 Tue Oct 15 22:56:18 EDT 2024 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| License | Copyright © 2016 Elsevier Ltd. All rights reserved. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c566t-420897f0c8e30d9dc09bba1aa8f836e355dee98c383e5a83fc7e2d7a10a9cf9b3 |
| Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
| PMID | 26597089 |
| PQID | 1765579765 |
| PQPubID | 26255 |
| PageCount | 13 |
| ParticipantIDs | proquest_miscellaneous_1767070830 proquest_journals_1765579765 crossref_primary_10_1016_S1474_4422_15_00250_1 pubmed_primary_26597089 elsevier_sciencedirect_doi_10_1016_S1474_4422_15_00250_1 elsevier_clinicalkeyesjournals_1_s2_0_S1474442215002501 |
| PublicationCentury | 2000 |
| PublicationDate | 2016-03-01 |
| PublicationDateYYYYMMDD | 2016-03-01 |
| PublicationDate_xml | – month: 03 year: 2016 text: 2016-03-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | England |
| PublicationPlace_xml | – name: England – name: London |
| PublicationTitle | Lancet neurology |
| PublicationTitleAlternate | Lancet Neurol |
| PublicationYear | 2016 |
| Publisher | Elsevier Ltd Elsevier Limited |
| Publisher_xml | – name: Elsevier Ltd – name: Elsevier Limited |
| References | Berg, Berkovic, Brodie (bib10) 2010; 51 Weckhuysen, Ivanovic, Hendrickx (bib57) 2013; 81 Lesca, Rudolf, Bruneau (bib25) 2013; 45 Carvill, Regan, Yendle (bib24) 2013; 45 Morimoto, Mazaki, Nishimura (bib46) 2006; 47 Miceli, Soldovieri, Ambrosino (bib49) 2013; 110 Carvill, McMahon, Schneider (bib82) 2015; 96 Poduri, Evrony, Cai, Walsh (bib20) 2013; 341 Milligan, Li, Gazina (bib68) 2014; 75 Chiron, Dulac (bib90) 2011; 52 Ohtahara, Ishida, Oka, Yamatogi, Inoue, Kanda (bib1) 1976; 8 Martin, Kim, Pagnamenta (bib67) 2014; 23 Wirrell, Grossardt, Wong-Kisiel, Nickels (bib5) 2011; 95 Ohba, Kato, Takahashi (bib63) 2015; 56 Huang, Tian, Hernandez, Hu, Macdonald (bib107) 2012; 48 Noebels (bib42) 2015; 18 Weckhuysen, Mandelstam, Suls (bib56) 2012; 71 Lemke, Riesch, Scheurenbrand (bib92) 2012; 53 Orhan, Bock, Schepers (bib50) 2014; 75 Carvill, Heavin, Yendle (bib23) 2013; 45 Catarino, Liu, Liagkouras (bib88) 2011; 134 Harkin, McMahon, Iona (bib35) 2007; 130 Heron, Smith, Bahlo (bib65) 2012; 44 Klepper (bib96) 2012; 100 Rauch, Wieczorek, Graf (bib34) 2012; 380 Ohtahara (bib2) 1977; 9 Cowan, Hudson (bib7) 1991; 6 Camfield (bib11) 2011; 52 Derry, Heron, Phillips (bib66) 2008; 49 Bender, Natola, Ndong, Holmes, Scott, Lenck-Santini (bib15) 2013; 54 Bayat, Hjalgrim, Møller (bib9) 2015; 56 Matsa, Dixon, Medway (bib111) 2014; 35 Singh, Pappas, Dahle (bib52) 2009; 5 Hussain (bib103) 2014; 7 Paciorkowski, Thio, Rosenfeld (bib83) 2011; 19 Bureau, Genton, Dravet (bib12) 2012 Howell, McMahon, Carvill (bib4) 2015; 85 Azzarito, Long, Murphy, Wilson (bib104) 2013; 5 Doose (bib72) 1992; 6 Pierson, Yuan, Marsh (bib99) 2014; 1 Gan, Qu, Li, Zhao, Mu (bib39) 2015; 26 Lund, Brodtkorb, Øye, Røsby, Selmer (bib75) 2014; 33 Poduri, Evrony, Cai (bib21) 2012; 74 Barcia, Fleming, Deligniere (bib29) 2012; 44 Eltze, Chong, Cox (bib6) 2013; 54 Strømme, Mangelsdorf, Shaw (bib69) 2002; 30 Mullen, Marini, Suls (bib73) 2011; 68 Carvill, Weckhuysen, McMahon (bib71) 2014; 82 Chieffo, Battaglia, Lettori (bib18) 2011; 95 Cai, Evrony, Lehmann (bib95) 2014; 8 Kato, Yamagata, Kubota (bib58) 2013; 54 Coppola, Plouin, Chiron, Robain, Dulac (bib61) 1995; 36 (bib85) 2014; 95 Might, Wilsey (bib91) 2014; 16 Kitamura, Yanazawa, Sugiyama (bib86) 2002; 32 Michaud, Lachance, Hamdan (bib74) 2014; 23 Ma, Su, Seven, Xu, Rizo (bib102) 2013; 339 Guerrini, Dobyns (bib22) 2014; 13 Rahman (bib40) 2012; 54 Vadlamudi, Dibbens, Lawrence (bib37) 2010; 363 Jamuar, Lam, Kircher (bib48) 2014; 371 Brunklaus, Dorris, Ellis (bib89) 2013; 55 Nakamura, Kato, Osaka (bib51) 2013; 81 Yu, Mantegazza, Westenbroek (bib17) 2006; 9 Nakamura, Kodera, Akita (bib81) 2013; 93 Zuberi, Brunklaus, Birch, Reavey, Duncan, Forbes (bib59) 2011; 76 Depienne, Arzimanoglou, Trouillard (bib44) 2006; 27 Thomas, Zhang, Carvill (bib3) 2015; 84 Itsara, Cooper, Baker (bib32) 2009; 84 Bearden, Strong, Ehnot, DiGiovine, Dlugos, Goldberg (bib100) 2014; 76 Osborne, Lux, Edwards (bib19) 2010; 51 Kato, Das, Petras (bib77) 2004; 23 Absoud, Parr, Halliday, Pretorius, Zaiwalla, Jayawant (bib78) 2010; 52 Makrythanasis, Antonarakis (bib38) 2013; 84 Touma, Joshi, Connolly (bib79) 2013; 54 Fullston, Brueton, Willis (bib76) 2010; 18 Depienne, Trouillard, Gourfinkel-An (bib41) 2010; 47 Depienne, Bouteiller, Keren (bib36) 2009; 5 Cirak, Arechavala-Gomeza, Guglieri (bib106) 2011; 378 Claes, Del-Favero, Ceulemans, Lagae, Van Broeckhoven, De Jonghe (bib30) 2001; 68 Saitsu, Kato, Mizuguchi (bib33) 2008; 40 Lee, Huynh, Silhavy (bib47) 2012; 44 Kullmann, Schorge, Walker, Wykes (bib109) 2014; 10 Veeramah, Johnstone, Karafet (bib28) 2013; 54 Weiss, Escayg, Kearney (bib14) 2003; 8 Lemke, Lal, Reinthaler (bib26) 2013; 45 Scheffer, Zhang, Jansen, Dibbens (bib60) 2009; 31 Garin Shkolnik, Feuerman, Didkovsky (bib97) 2014; 150 Biervert, Steinlein (bib55) 1999; 104 Møller, Heron, Larsen (bib64) 2015; 56 Mefford, Yendle, Hsu (bib31) 2011; 70 Singh, Andermann, Whitehouse (bib43) 2001; 42 Saitsu, Kato, Osaka (bib80) 2012; 53 Battaglia, Chieffo, Siracusano (bib16) 2013; 106 Wykes, Heeroma, Mantoan (bib108) 2012; 4 Stitziel, Kiezun, Sunyaev (bib93) 2011; 12 Bentley, Balasubramanian, Swerdlow (bib94) 2008; 456 Allen, Berkovic, Cossette (bib27) 2013; 501 Goldin, Barchi, Caldwell (bib13) 2000; 28 Oliver, Lukic, Thorne, Berkovic, Scheffer, Bahlo (bib84) 2014; 9 Kätzel, Nicholson, Schorge, Walker, Kullmann (bib110) 2014; 5 Liu, Lopez-Santiago, Yuan (bib105) 2013; 74 Hurst (bib8) 1990; 31 James (bib87) 2014 Marini, Mei, Helen Cross, Guerrini (bib45) 2006; 47 McTague, Appleton, Avula (bib62) 2013; 136 Mikati, Jiang, Carboni (bib101) 2015 Lemke, Hendrickx, Geider (bib98) 2014; 75 Shoubridge, Fullston, Gécz (bib70) 2010; 31 Singh, Charlier, Stauffer (bib54) 1998; 18 Pettit, Fenichel (bib53) 1980; 37 Heron (10.1016/S1474-4422(15)00250-1_bib65) 2012; 44 Barcia (10.1016/S1474-4422(15)00250-1_bib29) 2012; 44 Azzarito (10.1016/S1474-4422(15)00250-1_bib104) 2013; 5 Carvill (10.1016/S1474-4422(15)00250-1_bib23) 2013; 45 Kätzel (10.1016/S1474-4422(15)00250-1_bib110) 2014; 5 Cowan (10.1016/S1474-4422(15)00250-1_bib7) 1991; 6 Osborne (10.1016/S1474-4422(15)00250-1_bib19) 2010; 51 Morimoto (10.1016/S1474-4422(15)00250-1_bib46) 2006; 47 Miceli (10.1016/S1474-4422(15)00250-1_bib49) 2013; 110 Biervert (10.1016/S1474-4422(15)00250-1_bib55) 1999; 104 Bureau (10.1016/S1474-4422(15)00250-1_bib12) 2012 Rauch (10.1016/S1474-4422(15)00250-1_bib34) 2012; 380 Rahman (10.1016/S1474-4422(15)00250-1_bib40) 2012; 54 Lemke (10.1016/S1474-4422(15)00250-1_bib98) 2014; 75 Singh (10.1016/S1474-4422(15)00250-1_bib54) 1998; 18 Hurst (10.1016/S1474-4422(15)00250-1_bib8) 1990; 31 James (10.1016/S1474-4422(15)00250-1_bib87) 2014 Carvill (10.1016/S1474-4422(15)00250-1_bib24) 2013; 45 Singh (10.1016/S1474-4422(15)00250-1_bib43) 2001; 42 Singh (10.1016/S1474-4422(15)00250-1_bib52) 2009; 5 McTague (10.1016/S1474-4422(15)00250-1_bib62) 2013; 136 Hussain (10.1016/S1474-4422(15)00250-1_bib103) 2014; 7 Saitsu (10.1016/S1474-4422(15)00250-1_bib33) 2008; 40 Derry (10.1016/S1474-4422(15)00250-1_bib66) 2008; 49 Ma (10.1016/S1474-4422(15)00250-1_bib102) 2013; 339 Oliver (10.1016/S1474-4422(15)00250-1_bib84) 2014; 9 Milligan (10.1016/S1474-4422(15)00250-1_bib68) 2014; 75 Lemke (10.1016/S1474-4422(15)00250-1_bib26) 2013; 45 Kitamura (10.1016/S1474-4422(15)00250-1_bib86) 2002; 32 Chieffo (10.1016/S1474-4422(15)00250-1_bib18) 2011; 95 Mikati (10.1016/S1474-4422(15)00250-1_bib101) 2015 Might (10.1016/S1474-4422(15)00250-1_bib91) 2014; 16 Bearden (10.1016/S1474-4422(15)00250-1_bib100) 2014; 76 Depienne (10.1016/S1474-4422(15)00250-1_bib36) 2009; 5 Gan (10.1016/S1474-4422(15)00250-1_bib39) 2015; 26 Stitziel (10.1016/S1474-4422(15)00250-1_bib93) 2011; 12 Saitsu (10.1016/S1474-4422(15)00250-1_bib80) 2012; 53 Itsara (10.1016/S1474-4422(15)00250-1_bib32) 2009; 84 Cirak (10.1016/S1474-4422(15)00250-1_bib106) 2011; 378 Cai (10.1016/S1474-4422(15)00250-1_bib95) 2014; 8 Kato (10.1016/S1474-4422(15)00250-1_bib58) 2013; 54 Yu (10.1016/S1474-4422(15)00250-1_bib17) 2006; 9 Poduri (10.1016/S1474-4422(15)00250-1_bib20) 2013; 341 Brunklaus (10.1016/S1474-4422(15)00250-1_bib89) 2013; 55 Nakamura (10.1016/S1474-4422(15)00250-1_bib51) 2013; 81 Lemke (10.1016/S1474-4422(15)00250-1_bib92) 2012; 53 Berg (10.1016/S1474-4422(15)00250-1_bib10) 2010; 51 Bayat (10.1016/S1474-4422(15)00250-1_bib9) 2015; 56 Depienne (10.1016/S1474-4422(15)00250-1_bib41) 2010; 47 Howell (10.1016/S1474-4422(15)00250-1_bib4) 2015; 85 Catarino (10.1016/S1474-4422(15)00250-1_bib88) 2011; 134 Allen (10.1016/S1474-4422(15)00250-1_bib27) 2013; 501 Doose (10.1016/S1474-4422(15)00250-1_bib72) 1992; 6 Bender (10.1016/S1474-4422(15)00250-1_bib15) 2013; 54 Ohtahara (10.1016/S1474-4422(15)00250-1_bib2) 1977; 9 Wykes (10.1016/S1474-4422(15)00250-1_bib108) 2012; 4 Jamuar (10.1016/S1474-4422(15)00250-1_bib48) 2014; 371 Poduri (10.1016/S1474-4422(15)00250-1_bib21) 2012; 74 Goldin (10.1016/S1474-4422(15)00250-1_bib13) 2000; 28 Weckhuysen (10.1016/S1474-4422(15)00250-1_bib56) 2012; 71 Bentley (10.1016/S1474-4422(15)00250-1_bib94) 2008; 456 Pettit (10.1016/S1474-4422(15)00250-1_bib53) 1980; 37 Fullston (10.1016/S1474-4422(15)00250-1_bib76) 2010; 18 Lund (10.1016/S1474-4422(15)00250-1_bib75) 2014; 33 Touma (10.1016/S1474-4422(15)00250-1_bib79) 2013; 54 Guerrini (10.1016/S1474-4422(15)00250-1_bib22) 2014; 13 Kato (10.1016/S1474-4422(15)00250-1_bib77) 2004; 23 Battaglia (10.1016/S1474-4422(15)00250-1_bib16) 2013; 106 Lee (10.1016/S1474-4422(15)00250-1_bib47) 2012; 44 Martin (10.1016/S1474-4422(15)00250-1_bib67) 2014; 23 Veeramah (10.1016/S1474-4422(15)00250-1_bib28) 2013; 54 Absoud (10.1016/S1474-4422(15)00250-1_bib78) 2010; 52 Huang (10.1016/S1474-4422(15)00250-1_bib107) 2012; 48 Eltze (10.1016/S1474-4422(15)00250-1_bib6) 2013; 54 Marini (10.1016/S1474-4422(15)00250-1_bib45) 2006; 47 Orhan (10.1016/S1474-4422(15)00250-1_bib50) 2014; 75 Paciorkowski (10.1016/S1474-4422(15)00250-1_bib83) 2011; 19 Møller (10.1016/S1474-4422(15)00250-1_bib64) 2015; 56 Mullen (10.1016/S1474-4422(15)00250-1_bib73) 2011; 68 Scheffer (10.1016/S1474-4422(15)00250-1_bib60) 2009; 31 Carvill (10.1016/S1474-4422(15)00250-1_bib71) 2014; 82 Pierson (10.1016/S1474-4422(15)00250-1_bib99) 2014; 1 Ohba (10.1016/S1474-4422(15)00250-1_bib63) 2015; 56 Lesca (10.1016/S1474-4422(15)00250-1_bib25) 2013; 45 Ohtahara (10.1016/S1474-4422(15)00250-1_bib1) 1976; 8 Weiss (10.1016/S1474-4422(15)00250-1_bib14) 2003; 8 Zuberi (10.1016/S1474-4422(15)00250-1_bib59) 2011; 76 Thomas (10.1016/S1474-4422(15)00250-1_bib3) 2015; 84 Chiron (10.1016/S1474-4422(15)00250-1_bib90) 2011; 52 Coppola (10.1016/S1474-4422(15)00250-1_bib61) 1995; 36 Vadlamudi (10.1016/S1474-4422(15)00250-1_bib37) 2010; 363 Garin Shkolnik (10.1016/S1474-4422(15)00250-1_bib97) 2014; 150 Depienne (10.1016/S1474-4422(15)00250-1_bib44) 2006; 27 Klepper (10.1016/S1474-4422(15)00250-1_bib96) 2012; 100 Harkin (10.1016/S1474-4422(15)00250-1_bib35) 2007; 130 Carvill (10.1016/S1474-4422(15)00250-1_bib82) 2015; 96 Liu (10.1016/S1474-4422(15)00250-1_bib105) 2013; 74 Weckhuysen (10.1016/S1474-4422(15)00250-1_bib57) 2013; 81 Makrythanasis (10.1016/S1474-4422(15)00250-1_bib38) 2013; 84 Noebels (10.1016/S1474-4422(15)00250-1_bib42) 2015; 18 (10.1016/S1474-4422(15)00250-1_bib85) 2014; 95 Shoubridge (10.1016/S1474-4422(15)00250-1_bib70) 2010; 31 Matsa (10.1016/S1474-4422(15)00250-1_bib111) 2014; 35 Michaud (10.1016/S1474-4422(15)00250-1_bib74) 2014; 23 Wirrell (10.1016/S1474-4422(15)00250-1_bib5) 2011; 95 Claes (10.1016/S1474-4422(15)00250-1_bib30) 2001; 68 Nakamura (10.1016/S1474-4422(15)00250-1_bib81) 2013; 93 Mefford (10.1016/S1474-4422(15)00250-1_bib31) 2011; 70 Strømme (10.1016/S1474-4422(15)00250-1_bib69) 2002; 30 Kullmann (10.1016/S1474-4422(15)00250-1_bib109) 2014; 10 Camfield (10.1016/S1474-4422(15)00250-1_bib11) 2011; 52 |
| References_xml | – volume: 81 start-page: 992 year: 2013 end-page: 998 ident: bib51 article-title: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome publication-title: Neurology contributor: fullname: Osaka – year: 2014 ident: bib87 publication-title: An American in Oz contributor: fullname: James – volume: 1 start-page: 190 year: 2014 end-page: 198 ident: bib99 article-title: GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine publication-title: Ann Clin Transl Neurol contributor: fullname: Marsh – volume: 49 start-page: 2125 year: 2008 end-page: 2129 ident: bib66 article-title: Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability publication-title: Epilepsia contributor: fullname: Phillips – volume: 95 start-page: 110 year: 2011 end-page: 118 ident: bib5 article-title: Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a population-based study publication-title: Epilepsy Res contributor: fullname: Nickels – volume: 371 start-page: 733 year: 2014 end-page: 743 ident: bib48 article-title: Somatic mutations in cerebral cortical malformations publication-title: N Engl J Med contributor: fullname: Kircher – volume: 36 start-page: 1017 year: 1995 end-page: 1024 ident: bib61 article-title: Migrating partial seizures in infancy: a malignant disorder with developmental arrest publication-title: Epilepsia contributor: fullname: Dulac – volume: 52 start-page: 3 year: 2011 end-page: 9 ident: bib11 article-title: Definition and natural history of Lennox-Gastaut syndrome publication-title: Epilepsia contributor: fullname: Camfield – volume: 16 start-page: 736 year: 2014 end-page: 737 ident: bib91 article-title: The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated publication-title: Genet Med contributor: fullname: Wilsey – volume: 44 start-page: 941 year: 2012 end-page: 945 ident: bib47 article-title: De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly publication-title: Nat Genet contributor: fullname: Silhavy – volume: 8 start-page: 186 year: 2003 end-page: 194 ident: bib14 article-title: Sodium channels SCN1A, SCN2A and SCN3A in familial autism publication-title: Mol Psychiatry contributor: fullname: Kearney – volume: 68 start-page: 1327 year: 2001 end-page: 1332 ident: bib30 article-title: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy publication-title: Am J Hum Genet contributor: fullname: De Jonghe – volume: 76 start-page: 457 year: 2014 end-page: 461 ident: bib100 article-title: Targeted treatment of migrating partial seizures of infancy with quinidine publication-title: Ann Neurol contributor: fullname: Goldberg – volume: 96 start-page: 808 year: 2015 end-page: 815 ident: bib82 article-title: Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures publication-title: Am J Hum Genet contributor: fullname: Schneider – volume: 110 start-page: 4386 year: 2013 end-page: 4391 ident: bib49 article-title: Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K publication-title: Proc Natl Acad Sci USA contributor: fullname: Ambrosino – volume: 85 start-page: 958 year: 2015 end-page: 966 ident: bib4 article-title: SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures publication-title: Neurology contributor: fullname: Carvill – volume: 84 start-page: 422 year: 2013 end-page: 428 ident: bib38 article-title: Pathogenic variants in non-protein-coding sequences publication-title: Clin Genet contributor: fullname: Antonarakis – year: 2015 ident: bib101 article-title: Quinidine in the treatment of publication-title: Ann Neurol contributor: fullname: Carboni – volume: 106 start-page: 211 year: 2013 end-page: 221 ident: bib16 article-title: Cognitive decline in Dravet syndrome: is there a cerebellar role? publication-title: Epilepsy Res contributor: fullname: Siracusano – volume: 54 start-page: 1270 year: 2013 end-page: 1281 ident: bib28 article-title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies publication-title: Epilepsia contributor: fullname: Karafet – volume: 45 start-page: 1067 year: 2013 end-page: 1072 ident: bib26 article-title: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes publication-title: Nat Genet contributor: fullname: Reinthaler – volume: 75 start-page: 581 year: 2014 end-page: 590 ident: bib68 article-title: KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine publication-title: Ann Neurol contributor: fullname: Gazina – volume: 378 start-page: 595 year: 2011 end-page: 605 ident: bib106 article-title: Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study publication-title: Lancet contributor: fullname: Guglieri – volume: 74 start-page: 41 year: 2012 end-page: 48 ident: bib21 article-title: Somatic activation of AKT3 causes hemispheric developmental brain malformations publication-title: Neuron contributor: fullname: Cai – volume: 380 start-page: 1674 year: 2012 end-page: 1682 ident: bib34 article-title: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study publication-title: Lancet contributor: fullname: Graf – volume: 6 start-page: 355 year: 1991 end-page: 364 ident: bib7 article-title: The epidemiology and natural history of infantile spasms publication-title: J Child Neurol contributor: fullname: Hudson – volume: 47 start-page: 1732 year: 2006 end-page: 1736 ident: bib46 article-title: SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy publication-title: Epilepsia contributor: fullname: Nishimura – volume: 9 start-page: e102079 year: 2014 ident: bib84 article-title: Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes publication-title: PLoS One contributor: fullname: Bahlo – volume: 76 start-page: 594 year: 2011 end-page: 600 ident: bib59 article-title: Genotype-phenotype associations in SCN1A-related epilepsies publication-title: Neurology contributor: fullname: Forbes – volume: 54 start-page: 1282 year: 2013 end-page: 1287 ident: bib58 article-title: Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation publication-title: Epilepsia contributor: fullname: Kubota – volume: 68 start-page: 1152 year: 2011 end-page: 1155 ident: bib73 article-title: Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy publication-title: Arch Neurol contributor: fullname: Suls – volume: 31 start-page: 394 year: 2009 end-page: 400 ident: bib60 article-title: Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? publication-title: Brain Dev contributor: fullname: Dibbens – volume: 8 start-page: 270 year: 1976 end-page: 280 ident: bib1 article-title: On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-bursts publication-title: No To Hattatsu contributor: fullname: Kanda – volume: 52 start-page: 305 year: 2010 end-page: 307 ident: bib78 article-title: A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder publication-title: Dev Med Child Neurol contributor: fullname: Jayawant – volume: 75 start-page: 382 year: 2014 end-page: 394 ident: bib50 article-title: Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy publication-title: Ann Neurol contributor: fullname: Schepers – volume: 9 start-page: 2 year: 1977 end-page: 21 ident: bib2 article-title: A study on the age dependent epileptic encephalopathy publication-title: No To Hattatsu contributor: fullname: Ohtahara – volume: 31 start-page: 889 year: 2010 end-page: 900 ident: bib70 article-title: ARX spectrum disorders: making inroads into the molecular pathology publication-title: Hum Mutat contributor: fullname: Gécz – start-page: 157 year: 2012 end-page: 173 ident: bib12 publication-title: Epileptic syndromes in infancy, childhood and adolesence contributor: fullname: Dravet – volume: 47 start-page: 1737 year: 2006 end-page: 1740 ident: bib45 article-title: Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy publication-title: Epilepsia contributor: fullname: Guerrini – volume: 18 start-page: 25 year: 1998 end-page: 29 ident: bib54 article-title: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns publication-title: Nat Genet contributor: fullname: Stauffer – volume: 56 start-page: e114 year: 2015 end-page: e120 ident: bib64 article-title: Mutations in publication-title: Epilepsia contributor: fullname: Larsen – volume: 32 start-page: 359 year: 2002 end-page: 369 ident: bib86 article-title: Mutation of publication-title: Nat Genet contributor: fullname: Sugiyama – volume: 53 start-page: 1387 year: 2012 end-page: 1398 ident: bib92 article-title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders publication-title: Epilepsia contributor: fullname: Scheurenbrand – volume: 47 start-page: 404 year: 2010 end-page: 410 ident: bib41 article-title: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome publication-title: J Med Genet contributor: fullname: Gourfinkel-An – volume: 150 start-page: 984 year: 2014 end-page: 989 ident: bib97 article-title: Blue-gray mucocutaneous discoloration: a new adverse effect of ezogabine publication-title: JAMA Dermatol contributor: fullname: Didkovsky – volume: 37 start-page: 47 year: 1980 end-page: 48 ident: bib53 article-title: Benign familial neonatal seizures publication-title: Arch Neurol contributor: fullname: Fenichel – volume: 5 start-page: e1000649 year: 2009 ident: bib52 article-title: A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome publication-title: PLoS Genet contributor: fullname: Dahle – volume: 71 start-page: 15 year: 2012 end-page: 25 ident: bib56 article-title: KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy publication-title: Ann Neurol contributor: fullname: Suls – volume: 54 start-page: 437 year: 2013 end-page: 445 ident: bib6 article-title: A population-based study of newly diagnosed epilepsy in infants publication-title: Epilepsia contributor: fullname: Cox – volume: 54 start-page: e81 year: 2013 end-page: e85 ident: bib79 article-title: Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings publication-title: Epilepsia contributor: fullname: Connolly – volume: 84 start-page: 148 year: 2009 end-page: 161 ident: bib32 article-title: Population analysis of large copy number variants and hotspots of human genetic disease publication-title: Am J Hum Genet contributor: fullname: Baker – volume: 23 start-page: 3200 year: 2014 end-page: 3211 ident: bib67 article-title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis publication-title: Hum Mol Genet contributor: fullname: Pagnamenta – volume: 54 start-page: 297 year: 2013 end-page: 307 ident: bib15 article-title: Focal Scn1a knockdown induces cognitive impairment without seizures publication-title: Neurobiol Dis contributor: fullname: Lenck-Santini – volume: 18 start-page: 157 year: 2010 end-page: 162 ident: bib76 article-title: Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) publication-title: Eur J Hum Genet contributor: fullname: Willis – volume: 7 start-page: 6 year: 2014 ident: bib103 article-title: Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders publication-title: Front Mol Neurosci contributor: fullname: Hussain – volume: 51 start-page: 2168 year: 2010 end-page: 2174 ident: bib19 article-title: The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification publication-title: Epilepsia contributor: fullname: Edwards – volume: 12 start-page: 227 year: 2011 ident: bib93 article-title: Computational and statistical approaches to analyzing variants identified by exome sequencing publication-title: Genome Biol contributor: fullname: Sunyaev – volume: 30 start-page: 441 year: 2002 end-page: 445 ident: bib69 article-title: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy publication-title: Nat Genet contributor: fullname: Shaw – volume: 8 start-page: 1280 year: 2014 end-page: 1289 ident: bib95 article-title: Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain publication-title: Cell Reports contributor: fullname: Lehmann – volume: 100 start-page: 272 year: 2012 end-page: 277 ident: bib96 article-title: GLUT1 deficiency syndrome in clinical practice publication-title: Epilepsy Res contributor: fullname: Klepper – volume: 95 start-page: 86 year: 2011 end-page: 93 ident: bib18 article-title: Neuropsychological development in children with Dravet syndrome publication-title: Epilepsy Res contributor: fullname: Lettori – volume: 52 start-page: 72 year: 2011 end-page: 75 ident: bib90 article-title: The pharmacologic treatment of Dravet syndrome publication-title: Epilepsia contributor: fullname: Dulac – volume: 10 start-page: 300 year: 2014 end-page: 304 ident: bib109 article-title: Gene therapy in epilepsy-is it time for clinical trials? publication-title: Nat Rev Neurol contributor: fullname: Wykes – volume: 4 start-page: 161ra152 year: 2012 ident: bib108 article-title: Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy publication-title: Sci Transl Med contributor: fullname: Mantoan – volume: 5 start-page: e1000381 year: 2009 ident: bib36 article-title: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females publication-title: PLoS Genet contributor: fullname: Keren – volume: 45 start-page: 1061 year: 2013 end-page: 1066 ident: bib25 article-title: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction publication-title: Nat Genet contributor: fullname: Bruneau – volume: 33 start-page: 18 year: 2014 end-page: 21 ident: bib75 article-title: CHD2 mutations in Lennox-Gastaut syndrome publication-title: Epilepsy Behav contributor: fullname: Selmer – volume: 53 start-page: 1441 year: 2012 end-page: 1449 ident: bib80 article-title: CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia publication-title: Epilepsia contributor: fullname: Osaka – volume: 130 start-page: 843 year: 2007 end-page: 852 ident: bib35 article-title: The spectrum of SCN1A-related infantile epileptic encephalopathies publication-title: Brain contributor: fullname: Iona – volume: 44 start-page: 1188 year: 2012 end-page: 1190 ident: bib65 article-title: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy publication-title: Nat Genet contributor: fullname: Bahlo – volume: 95 start-page: 360 year: 2014 end-page: 370 ident: bib85 article-title: De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies publication-title: Am J Hum Genet – volume: 19 start-page: 1238 year: 2011 end-page: 1245 ident: bib83 article-title: Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function publication-title: Eur J Hum Genet contributor: fullname: Rosenfeld – volume: 26 start-page: 225 year: 2015 end-page: 237 ident: bib39 article-title: An evaluation of the links between microRNA, autophagy, and epilepsy publication-title: Rev Neurosci contributor: fullname: Mu – volume: 23 start-page: 4846 year: 2014 end-page: 4858 ident: bib74 article-title: The genetic landscape of infantile spasms publication-title: Hum Mol Genet contributor: fullname: Hamdan – volume: 501 start-page: 217 year: 2013 end-page: 221 ident: bib27 article-title: De novo mutations in epileptic encephalopathies publication-title: Nature contributor: fullname: Cossette – volume: 6 start-page: 163 year: 1992 end-page: 168 ident: bib72 article-title: Myoclonic-astatic epilepsy publication-title: Epilepsy Res Suppl contributor: fullname: Doose – volume: 339 start-page: 421 year: 2013 end-page: 425 ident: bib102 article-title: Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release publication-title: Science contributor: fullname: Rizo – volume: 9 start-page: 1142 year: 2006 end-page: 1149 ident: bib17 article-title: Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy publication-title: Nat Neurosci contributor: fullname: Westenbroek – volume: 74 start-page: 128 year: 2013 end-page: 139 ident: bib105 article-title: Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism publication-title: Ann Neurol contributor: fullname: Yuan – volume: 84 start-page: 951 year: 2015 end-page: 958 ident: bib3 article-title: CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures publication-title: Neurology contributor: fullname: Carvill – volume: 44 start-page: 1255 year: 2012 end-page: 1259 ident: bib29 article-title: De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy publication-title: Nat Genet contributor: fullname: Deligniere – volume: 45 start-page: 825 year: 2013 end-page: 830 ident: bib23 article-title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 publication-title: Nat Genet contributor: fullname: Yendle – volume: 45 start-page: 1073 year: 2013 end-page: 1076 ident: bib24 article-title: GRIN2A mutations cause epilepsy-aphasia spectrum disorders publication-title: Nat Genet contributor: fullname: Yendle – volume: 31 start-page: 397 year: 1990 end-page: 400 ident: bib8 article-title: Epidemiology of severe myoclonic epilepsy of infancy publication-title: Epilepsia contributor: fullname: Hurst – volume: 27 start-page: 389 year: 2006 ident: bib44 article-title: Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy publication-title: Hum Mutat contributor: fullname: Trouillard – volume: 54 start-page: 397 year: 2012 end-page: 406 ident: bib40 article-title: Mitochondrial disease and epilepsy publication-title: Dev Med Child Neurol contributor: fullname: Rahman – volume: 55 start-page: 154 year: 2013 end-page: 161 ident: bib89 article-title: The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy publication-title: Dev Med Child Neurol contributor: fullname: Ellis – volume: 75 start-page: 147 year: 2014 end-page: 154 ident: bib98 article-title: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy publication-title: Ann Neurol contributor: fullname: Geider – volume: 93 start-page: 496 year: 2013 end-page: 505 ident: bib81 article-title: De novo mutations in publication-title: Am J Hum Genet contributor: fullname: Akita – volume: 56 start-page: e36 year: 2015 end-page: e39 ident: bib9 article-title: The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009 publication-title: Epilepsia contributor: fullname: Møller – volume: 134 start-page: 2982 year: 2011 end-page: 3010 ident: bib88 article-title: Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology publication-title: Brain contributor: fullname: Liagkouras – volume: 51 start-page: 676 year: 2010 end-page: 685 ident: bib10 article-title: Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009 publication-title: Epilepsia contributor: fullname: Brodie – volume: 56 start-page: e121 year: 2015 end-page: e128 ident: bib63 article-title: De novo publication-title: Epilepsia contributor: fullname: Takahashi – volume: 5 start-page: 3847 year: 2014 ident: bib110 article-title: Chemical-genetic attenuation of focal neocortical seizures publication-title: Nat Commun contributor: fullname: Kullmann – volume: 5 start-page: 161 year: 2013 end-page: 173 ident: bib104 article-title: Inhibition of α-helix-mediated protein-protein interactions using designed molecules publication-title: Nat Chem contributor: fullname: Wilson – volume: 35 start-page: 1078 year: 2014 end-page: 1087 ident: bib111 article-title: Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes publication-title: Eur Heart J contributor: fullname: Medway – volume: 104 start-page: 234 year: 1999 end-page: 240 ident: bib55 article-title: Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions publication-title: Hum Genet contributor: fullname: Steinlein – volume: 13 start-page: 710 year: 2014 end-page: 726 ident: bib22 article-title: Malformations of cortical development: clinical features and genetic causes publication-title: Lancet Neurol contributor: fullname: Dobyns – volume: 23 start-page: 147 year: 2004 end-page: 159 ident: bib77 article-title: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation publication-title: Hum Mutat contributor: fullname: Petras – volume: 42 start-page: 837 year: 2001 end-page: 844 ident: bib43 article-title: Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? publication-title: Epilepsia contributor: fullname: Whitehouse – volume: 81 start-page: 1697 year: 2013 end-page: 1703 ident: bib57 article-title: Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients publication-title: Neurology contributor: fullname: Hendrickx – volume: 48 start-page: 115 year: 2012 end-page: 123 ident: bib107 article-title: The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through publication-title: Neurobiol Dis contributor: fullname: Macdonald – volume: 456 start-page: 53 year: 2008 end-page: 59 ident: bib94 article-title: Accurate whole human genome sequencing using reversible terminator chemistry publication-title: Nature contributor: fullname: Swerdlow – volume: 18 start-page: 344 year: 2015 end-page: 350 ident: bib42 article-title: Pathway-driven discovery of epilepsy genes publication-title: Nat Neurosci contributor: fullname: Noebels – volume: 28 start-page: 365 year: 2000 end-page: 368 ident: bib13 article-title: Nomenclature of voltage-gated sodium channels publication-title: Neuron contributor: fullname: Caldwell – volume: 70 start-page: 974 year: 2011 end-page: 985 ident: bib31 article-title: Rare copy number variants are an important cause of epileptic encephalopathies publication-title: Ann Neurol contributor: fullname: Hsu – volume: 136 start-page: 1578 year: 2013 end-page: 1591 ident: bib62 article-title: Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum publication-title: Brain contributor: fullname: Avula – volume: 40 start-page: 782 year: 2008 end-page: 788 ident: bib33 article-title: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy publication-title: Nat Genet contributor: fullname: Mizuguchi – volume: 82 start-page: 1245 year: 2014 end-page: 1253 ident: bib71 article-title: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome publication-title: Neurology contributor: fullname: McMahon – volume: 363 start-page: 1335 year: 2010 end-page: 1340 ident: bib37 article-title: Timing of de novo mutagenesis—a twin study of sodium-channel mutations publication-title: N Engl J Med contributor: fullname: Lawrence – volume: 341 start-page: 1237758 year: 2013 ident: bib20 article-title: Somatic mutation, genomic variation, and neurological disease publication-title: Science contributor: fullname: Walsh – volume: 81 start-page: 1697 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib57 article-title: Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients publication-title: Neurology doi: 10.1212/01.wnl.0000435296.72400.a1 contributor: fullname: Weckhuysen – volume: 12 start-page: 227 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib93 article-title: Computational and statistical approaches to analyzing variants identified by exome sequencing publication-title: Genome Biol doi: 10.1186/gb-2011-12-9-227 contributor: fullname: Stitziel – volume: 76 start-page: 594 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib59 article-title: Genotype-phenotype associations in SCN1A-related epilepsies publication-title: Neurology doi: 10.1212/WNL.0b013e31820c309b contributor: fullname: Zuberi – volume: 28 start-page: 365 year: 2000 ident: 10.1016/S1474-4422(15)00250-1_bib13 article-title: Nomenclature of voltage-gated sodium channels publication-title: Neuron doi: 10.1016/S0896-6273(00)00116-1 contributor: fullname: Goldin – volume: 9 start-page: 1142 year: 2006 ident: 10.1016/S1474-4422(15)00250-1_bib17 article-title: Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy publication-title: Nat Neurosci doi: 10.1038/nn1754 contributor: fullname: Yu – volume: 134 start-page: 2982 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib88 article-title: Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology publication-title: Brain doi: 10.1093/brain/awr129 contributor: fullname: Catarino – volume: 150 start-page: 984 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib97 article-title: Blue-gray mucocutaneous discoloration: a new adverse effect of ezogabine publication-title: JAMA Dermatol doi: 10.1001/jamadermatol.2013.8895 contributor: fullname: Garin Shkolnik – volume: 136 start-page: 1578 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib62 article-title: Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum publication-title: Brain doi: 10.1093/brain/awt073 contributor: fullname: McTague – year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib87 contributor: fullname: James – volume: 18 start-page: 25 year: 1998 ident: 10.1016/S1474-4422(15)00250-1_bib54 article-title: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns publication-title: Nat Genet doi: 10.1038/ng0198-25 contributor: fullname: Singh – volume: 74 start-page: 128 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib105 article-title: Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism publication-title: Ann Neurol doi: 10.1002/ana.23897 contributor: fullname: Liu – volume: 31 start-page: 889 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib70 article-title: ARX spectrum disorders: making inroads into the molecular pathology publication-title: Hum Mutat doi: 10.1002/humu.21288 contributor: fullname: Shoubridge – volume: 54 start-page: 437 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib6 article-title: A population-based study of newly diagnosed epilepsy in infants publication-title: Epilepsia doi: 10.1111/epi.12046 contributor: fullname: Eltze – volume: 23 start-page: 147 year: 2004 ident: 10.1016/S1474-4422(15)00250-1_bib77 article-title: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation publication-title: Hum Mutat doi: 10.1002/humu.10310 contributor: fullname: Kato – volume: 31 start-page: 397 year: 1990 ident: 10.1016/S1474-4422(15)00250-1_bib8 article-title: Epidemiology of severe myoclonic epilepsy of infancy publication-title: Epilepsia doi: 10.1111/j.1528-1157.1990.tb05494.x contributor: fullname: Hurst – volume: 44 start-page: 1255 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib29 article-title: De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy publication-title: Nat Genet doi: 10.1038/ng.2441 contributor: fullname: Barcia – start-page: 157 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib12 contributor: fullname: Bureau – volume: 36 start-page: 1017 year: 1995 ident: 10.1016/S1474-4422(15)00250-1_bib61 article-title: Migrating partial seizures in infancy: a malignant disorder with developmental arrest publication-title: Epilepsia doi: 10.1111/j.1528-1157.1995.tb00961.x contributor: fullname: Coppola – volume: 56 start-page: e36 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib9 article-title: The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009 publication-title: Epilepsia doi: 10.1111/epi.12927 contributor: fullname: Bayat – volume: 52 start-page: 3 issue: suppl 50 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib11 article-title: Definition and natural history of Lennox-Gastaut syndrome publication-title: Epilepsia doi: 10.1111/j.1528-1167.2011.03177.x contributor: fullname: Camfield – volume: 45 start-page: 1067 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib26 article-title: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes publication-title: Nat Genet doi: 10.1038/ng.2728 contributor: fullname: Lemke – volume: 95 start-page: 86 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib18 article-title: Neuropsychological development in children with Dravet syndrome publication-title: Epilepsy Res doi: 10.1016/j.eplepsyres.2011.03.005 contributor: fullname: Chieffo – volume: 52 start-page: 305 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib78 article-title: A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder publication-title: Dev Med Child Neurol doi: 10.1111/j.1469-8749.2009.03470.x contributor: fullname: Absoud – volume: 339 start-page: 421 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib102 article-title: Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release publication-title: Science doi: 10.1126/science.1230473 contributor: fullname: Ma – volume: 81 start-page: 992 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib51 article-title: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome publication-title: Neurology doi: 10.1212/WNL.0b013e3182a43e57 contributor: fullname: Nakamura – volume: 42 start-page: 837 year: 2001 ident: 10.1016/S1474-4422(15)00250-1_bib43 article-title: Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? publication-title: Epilepsia doi: 10.1046/j.1528-1157.2001.042007837.x contributor: fullname: Singh – volume: 35 start-page: 1078 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib111 article-title: Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes publication-title: Eur Heart J doi: 10.1093/eurheartj/eht067 contributor: fullname: Matsa – volume: 8 start-page: 270 year: 1976 ident: 10.1016/S1474-4422(15)00250-1_bib1 article-title: On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-bursts publication-title: No To Hattatsu contributor: fullname: Ohtahara – volume: 18 start-page: 157 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib76 article-title: Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2009.139 contributor: fullname: Fullston – volume: 95 start-page: 360 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib85 article-title: De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2014.08.013 – volume: 45 start-page: 825 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib23 article-title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 publication-title: Nat Genet doi: 10.1038/ng.2646 contributor: fullname: Carvill – volume: 45 start-page: 1073 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib24 article-title: GRIN2A mutations cause epilepsy-aphasia spectrum disorders publication-title: Nat Genet doi: 10.1038/ng.2727 contributor: fullname: Carvill – volume: 70 start-page: 974 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib31 article-title: Rare copy number variants are an important cause of epileptic encephalopathies publication-title: Ann Neurol doi: 10.1002/ana.22645 contributor: fullname: Mefford – volume: 6 start-page: 163 year: 1992 ident: 10.1016/S1474-4422(15)00250-1_bib72 article-title: Myoclonic-astatic epilepsy publication-title: Epilepsy Res Suppl contributor: fullname: Doose – volume: 371 start-page: 733 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib48 article-title: Somatic mutations in cerebral cortical malformations publication-title: N Engl J Med doi: 10.1056/NEJMoa1314432 contributor: fullname: Jamuar – volume: 49 start-page: 2125 year: 2008 ident: 10.1016/S1474-4422(15)00250-1_bib66 article-title: Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability publication-title: Epilepsia doi: 10.1111/j.1528-1167.2008.01652.x contributor: fullname: Derry – volume: 54 start-page: 1282 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib58 article-title: Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation publication-title: Epilepsia doi: 10.1111/epi.12200 contributor: fullname: Kato – volume: 9 start-page: e102079 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib84 article-title: Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes publication-title: PLoS One doi: 10.1371/journal.pone.0102079 contributor: fullname: Oliver – volume: 5 start-page: e1000649 year: 2009 ident: 10.1016/S1474-4422(15)00250-1_bib52 article-title: A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome publication-title: PLoS Genet doi: 10.1371/journal.pgen.1000649 contributor: fullname: Singh – volume: 8 start-page: 186 year: 2003 ident: 10.1016/S1474-4422(15)00250-1_bib14 article-title: Sodium channels SCN1A, SCN2A and SCN3A in familial autism publication-title: Mol Psychiatry doi: 10.1038/sj.mp.4001241 contributor: fullname: Weiss – volume: 51 start-page: 2168 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib19 article-title: The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification publication-title: Epilepsia doi: 10.1111/j.1528-1167.2010.02695.x contributor: fullname: Osborne – volume: 95 start-page: 110 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib5 article-title: Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a population-based study publication-title: Epilepsy Res doi: 10.1016/j.eplepsyres.2011.03.009 contributor: fullname: Wirrell – volume: 5 start-page: e1000381 year: 2009 ident: 10.1016/S1474-4422(15)00250-1_bib36 article-title: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females publication-title: PLoS Genet doi: 10.1371/journal.pgen.1000381 contributor: fullname: Depienne – volume: 23 start-page: 3200 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib67 article-title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis publication-title: Hum Mol Genet doi: 10.1093/hmg/ddu030 contributor: fullname: Martin – volume: 75 start-page: 147 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib98 article-title: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy publication-title: Ann Neurol doi: 10.1002/ana.24073 contributor: fullname: Lemke – volume: 54 start-page: 297 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib15 article-title: Focal Scn1a knockdown induces cognitive impairment without seizures publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2012.12.021 contributor: fullname: Bender – volume: 93 start-page: 496 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib81 article-title: De novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.07.014 contributor: fullname: Nakamura – volume: 45 start-page: 1061 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib25 article-title: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction publication-title: Nat Genet doi: 10.1038/ng.2726 contributor: fullname: Lesca – volume: 501 start-page: 217 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib27 article-title: De novo mutations in epileptic encephalopathies publication-title: Nature doi: 10.1038/nature12439 contributor: fullname: Allen – volume: 54 start-page: 1270 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib28 article-title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies publication-title: Epilepsia doi: 10.1111/epi.12201 contributor: fullname: Veeramah – volume: 23 start-page: 4846 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib74 article-title: The genetic landscape of infantile spasms publication-title: Hum Mol Genet doi: 10.1093/hmg/ddu199 contributor: fullname: Michaud – volume: 37 start-page: 47 year: 1980 ident: 10.1016/S1474-4422(15)00250-1_bib53 article-title: Benign familial neonatal seizures publication-title: Arch Neurol doi: 10.1001/archneur.1980.00500500077012 contributor: fullname: Pettit – year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib101 article-title: Quinidine in the treatment of KCNT1 positive epilepsies publication-title: Ann Neurol doi: 10.1002/ana.24520 contributor: fullname: Mikati – volume: 341 start-page: 1237758 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib20 article-title: Somatic mutation, genomic variation, and neurological disease publication-title: Science doi: 10.1126/science.1237758 contributor: fullname: Poduri – volume: 378 start-page: 595 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib106 article-title: Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study publication-title: Lancet doi: 10.1016/S0140-6736(11)60756-3 contributor: fullname: Cirak – volume: 106 start-page: 211 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib16 article-title: Cognitive decline in Dravet syndrome: is there a cerebellar role? publication-title: Epilepsy Res doi: 10.1016/j.eplepsyres.2013.03.012 contributor: fullname: Battaglia – volume: 44 start-page: 941 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib47 article-title: De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly publication-title: Nat Genet doi: 10.1038/ng.2329 contributor: fullname: Lee – volume: 26 start-page: 225 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib39 article-title: An evaluation of the links between microRNA, autophagy, and epilepsy publication-title: Rev Neurosci doi: 10.1515/revneuro-2014-0062 contributor: fullname: Gan – volume: 7 start-page: 6 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib103 article-title: Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders publication-title: Front Mol Neurosci doi: 10.3389/fnmol.2014.00006 contributor: fullname: Hussain – volume: 47 start-page: 1732 year: 2006 ident: 10.1016/S1474-4422(15)00250-1_bib46 article-title: SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy publication-title: Epilepsia doi: 10.1111/j.1528-1167.2006.00645.x contributor: fullname: Morimoto – volume: 100 start-page: 272 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib96 article-title: GLUT1 deficiency syndrome in clinical practice publication-title: Epilepsy Res doi: 10.1016/j.eplepsyres.2011.02.007 contributor: fullname: Klepper – volume: 52 start-page: 72 issue: suppl 2 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib90 article-title: The pharmacologic treatment of Dravet syndrome publication-title: Epilepsia doi: 10.1111/j.1528-1167.2011.03007.x contributor: fullname: Chiron – volume: 68 start-page: 1327 year: 2001 ident: 10.1016/S1474-4422(15)00250-1_bib30 article-title: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy publication-title: Am J Hum Genet doi: 10.1086/320609 contributor: fullname: Claes – volume: 19 start-page: 1238 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib83 article-title: Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2011.121 contributor: fullname: Paciorkowski – volume: 456 start-page: 53 year: 2008 ident: 10.1016/S1474-4422(15)00250-1_bib94 article-title: Accurate whole human genome sequencing using reversible terminator chemistry publication-title: Nature doi: 10.1038/nature07517 contributor: fullname: Bentley – volume: 84 start-page: 148 year: 2009 ident: 10.1016/S1474-4422(15)00250-1_bib32 article-title: Population analysis of large copy number variants and hotspots of human genetic disease publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2008.12.014 contributor: fullname: Itsara – volume: 32 start-page: 359 year: 2002 ident: 10.1016/S1474-4422(15)00250-1_bib86 article-title: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans publication-title: Nat Genet doi: 10.1038/ng1009 contributor: fullname: Kitamura – volume: 30 start-page: 441 year: 2002 ident: 10.1016/S1474-4422(15)00250-1_bib69 article-title: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy publication-title: Nat Genet doi: 10.1038/ng862 contributor: fullname: Strømme – volume: 9 start-page: 2 year: 1977 ident: 10.1016/S1474-4422(15)00250-1_bib2 article-title: A study on the age dependent epileptic encephalopathy publication-title: No To Hattatsu contributor: fullname: Ohtahara – volume: 76 start-page: 457 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib100 article-title: Targeted treatment of migrating partial seizures of infancy with quinidine publication-title: Ann Neurol doi: 10.1002/ana.24229 contributor: fullname: Bearden – volume: 75 start-page: 581 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib68 article-title: KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine publication-title: Ann Neurol doi: 10.1002/ana.24128 contributor: fullname: Milligan – volume: 5 start-page: 3847 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib110 article-title: Chemical-genetic attenuation of focal neocortical seizures publication-title: Nat Commun doi: 10.1038/ncomms4847 contributor: fullname: Kätzel – volume: 33 start-page: 18 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib75 article-title: CHD2 mutations in Lennox-Gastaut syndrome publication-title: Epilepsy Behav doi: 10.1016/j.yebeh.2014.02.005 contributor: fullname: Lund – volume: 104 start-page: 234 year: 1999 ident: 10.1016/S1474-4422(15)00250-1_bib55 article-title: Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions publication-title: Hum Genet contributor: fullname: Biervert – volume: 363 start-page: 1335 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib37 article-title: Timing of de novo mutagenesis—a twin study of sodium-channel mutations publication-title: N Engl J Med doi: 10.1056/NEJMoa0910752 contributor: fullname: Vadlamudi – volume: 48 start-page: 115 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib107 article-title: The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2012.06.013 contributor: fullname: Huang – volume: 130 start-page: 843 year: 2007 ident: 10.1016/S1474-4422(15)00250-1_bib35 article-title: The spectrum of SCN1A-related infantile epileptic encephalopathies publication-title: Brain doi: 10.1093/brain/awm002 contributor: fullname: Harkin – volume: 110 start-page: 4386 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib49 article-title: Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.1216867110 contributor: fullname: Miceli – volume: 56 start-page: e114 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib64 article-title: Mutations in KCNT1 cause a spectrum of focal epilepsies publication-title: Epilepsia doi: 10.1111/epi.13071 contributor: fullname: Møller – volume: 53 start-page: 1387 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib92 article-title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders publication-title: Epilepsia doi: 10.1111/j.1528-1167.2012.03516.x contributor: fullname: Lemke – volume: 56 start-page: e121 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib63 article-title: De novo KCNT1 mutations in early-onset epileptic encephalopathy publication-title: Epilepsia doi: 10.1111/epi.13072 contributor: fullname: Ohba – volume: 47 start-page: 404 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib41 article-title: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome publication-title: J Med Genet doi: 10.1136/jmg.2009.074328 contributor: fullname: Depienne – volume: 53 start-page: 1441 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib80 article-title: CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia publication-title: Epilepsia doi: 10.1111/j.1528-1167.2012.03548.x contributor: fullname: Saitsu – volume: 5 start-page: 161 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib104 article-title: Inhibition of α-helix-mediated protein-protein interactions using designed molecules publication-title: Nat Chem doi: 10.1038/nchem.1568 contributor: fullname: Azzarito – volume: 16 start-page: 736 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib91 article-title: The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated publication-title: Genet Med doi: 10.1038/gim.2014.23 contributor: fullname: Might – volume: 27 start-page: 389 year: 2006 ident: 10.1016/S1474-4422(15)00250-1_bib44 article-title: Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy publication-title: Hum Mutat doi: 10.1002/humu.9419 contributor: fullname: Depienne – volume: 68 start-page: 1152 year: 2011 ident: 10.1016/S1474-4422(15)00250-1_bib73 article-title: Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy publication-title: Arch Neurol doi: 10.1001/archneurol.2011.102 contributor: fullname: Mullen – volume: 380 start-page: 1674 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib34 article-title: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study publication-title: Lancet doi: 10.1016/S0140-6736(12)61480-9 contributor: fullname: Rauch – volume: 96 start-page: 808 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib82 article-title: Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2015.02.016 contributor: fullname: Carvill – volume: 10 start-page: 300 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib109 article-title: Gene therapy in epilepsy-is it time for clinical trials? publication-title: Nat Rev Neurol doi: 10.1038/nrneurol.2014.43 contributor: fullname: Kullmann – volume: 54 start-page: e81 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib79 article-title: Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings publication-title: Epilepsia doi: 10.1111/epi.12137 contributor: fullname: Touma – volume: 1 start-page: 190 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib99 article-title: GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine publication-title: Ann Clin Transl Neurol doi: 10.1002/acn3.39 contributor: fullname: Pierson – volume: 84 start-page: 422 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib38 article-title: Pathogenic variants in non-protein-coding sequences publication-title: Clin Genet doi: 10.1111/cge.12272 contributor: fullname: Makrythanasis – volume: 6 start-page: 355 year: 1991 ident: 10.1016/S1474-4422(15)00250-1_bib7 article-title: The epidemiology and natural history of infantile spasms publication-title: J Child Neurol doi: 10.1177/088307389100600412 contributor: fullname: Cowan – volume: 40 start-page: 782 year: 2008 ident: 10.1016/S1474-4422(15)00250-1_bib33 article-title: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy publication-title: Nat Genet doi: 10.1038/ng.150 contributor: fullname: Saitsu – volume: 75 start-page: 382 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib50 article-title: Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy publication-title: Ann Neurol doi: 10.1002/ana.24080 contributor: fullname: Orhan – volume: 74 start-page: 41 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib21 article-title: Somatic activation of AKT3 causes hemispheric developmental brain malformations publication-title: Neuron doi: 10.1016/j.neuron.2012.03.010 contributor: fullname: Poduri – volume: 44 start-page: 1188 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib65 article-title: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy publication-title: Nat Genet doi: 10.1038/ng.2440 contributor: fullname: Heron – volume: 8 start-page: 1280 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib95 article-title: Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain publication-title: Cell Reports doi: 10.1016/j.celrep.2014.07.043 contributor: fullname: Cai – volume: 85 start-page: 958 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib4 article-title: SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures publication-title: Neurology doi: 10.1212/WNL.0000000000001926 contributor: fullname: Howell – volume: 71 start-page: 15 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib56 article-title: KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy publication-title: Ann Neurol doi: 10.1002/ana.22644 contributor: fullname: Weckhuysen – volume: 31 start-page: 394 year: 2009 ident: 10.1016/S1474-4422(15)00250-1_bib60 article-title: Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? publication-title: Brain Dev doi: 10.1016/j.braindev.2009.01.001 contributor: fullname: Scheffer – volume: 51 start-page: 676 year: 2010 ident: 10.1016/S1474-4422(15)00250-1_bib10 article-title: Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009 publication-title: Epilepsia doi: 10.1111/j.1528-1167.2010.02522.x contributor: fullname: Berg – volume: 82 start-page: 1245 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib71 article-title: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome publication-title: Neurology doi: 10.1212/WNL.0000000000000291 contributor: fullname: Carvill – volume: 13 start-page: 710 year: 2014 ident: 10.1016/S1474-4422(15)00250-1_bib22 article-title: Malformations of cortical development: clinical features and genetic causes publication-title: Lancet Neurol doi: 10.1016/S1474-4422(14)70040-7 contributor: fullname: Guerrini – volume: 55 start-page: 154 year: 2013 ident: 10.1016/S1474-4422(15)00250-1_bib89 article-title: The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy publication-title: Dev Med Child Neurol doi: 10.1111/dmcn.12030 contributor: fullname: Brunklaus – volume: 4 start-page: 161ra152 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib108 article-title: Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy publication-title: Sci Transl Med doi: 10.1126/scitranslmed.3004190 contributor: fullname: Wykes – volume: 84 start-page: 951 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib3 article-title: CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures publication-title: Neurology doi: 10.1212/WNL.0000000000001305 contributor: fullname: Thomas – volume: 18 start-page: 344 year: 2015 ident: 10.1016/S1474-4422(15)00250-1_bib42 article-title: Pathway-driven discovery of epilepsy genes publication-title: Nat Neurosci doi: 10.1038/nn.3933 contributor: fullname: Noebels – volume: 47 start-page: 1737 year: 2006 ident: 10.1016/S1474-4422(15)00250-1_bib45 article-title: Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy publication-title: Epilepsia doi: 10.1111/j.1528-1167.2006.00675.x contributor: fullname: Marini – volume: 54 start-page: 397 year: 2012 ident: 10.1016/S1474-4422(15)00250-1_bib40 article-title: Mitochondrial disease and epilepsy publication-title: Dev Med Child Neurol doi: 10.1111/j.1469-8749.2011.04214.x contributor: fullname: Rahman |
| SSID | ssj0021481 |
| Score | 2.6756034 |
| SecondaryResourceType | review_article |
| Snippet | Summary Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types,... Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent... |
| SourceID | proquest crossref pubmed elsevier |
| SourceType | Aggregation Database Index Database Publisher |
| StartPage | 304 |
| SubjectTerms | Age Autism Brain Diseases - etiology Brain Diseases - genetics Brain Diseases - physiopathology Brain Diseases - therapy Child Child, Preschool Epilepsy Epilepsy - complications Epilepsy - genetics Epilepsy - physiopathology Epilepsy - therapy Humans Infant Neurology |
| Title | The genetic landscape of the epileptic encephalopathies of infancy and childhood |
| URI | https://www.clinicalkey.es/playcontent/1-s2.0-S1474442215002501 https://dx.doi.org/10.1016/S1474-4422(15)00250-1 https://www.ncbi.nlm.nih.gov/pubmed/26597089 https://www.proquest.com/docview/1765579765 https://search.proquest.com/docview/1767070830 |
| Volume | 15 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV3dT9wwDLc2TkJ7QWPj4xigTNoDPBSatmnap2mgO50mgRAf0r1FaepqD9O10OP_x04_7onttakb1XbsX2I7Bvhhnao0-R2O6kZBkmIVEDji47DQOomEQFKuHb65TRdPye-lWvYHbm2fVjnYRG-oy9rxGfml1KlSmpyn-tk8B9w1iqOrfQuNjzCREbly0me93Gy4COr7DVeikyBJomhTwXP5MD48k-rcI4FAvueb3sOe3gfNP8NODx7Fr07au_ABV19g-6YPj3-FOxK6II3gwkThi3g5vUnUlSCYJ7AhC9DwEK_m5o_9W_t-xNjyG6RpbGgFUQk33He8B0_z2eP1IuhbJgSOcNk64GB5rqvQZRiHZV66MC8KK63NqixOkcBFiZhnjvalqGwWV05jVGpLksldlRfxPmyt6hUegsDCJQXqorLcn7q0eZjbQqG1ofXLfAoXA7NM092MYcaUMeauYe4aqYznrpFT0ANLzVD2SYYK237VtEaaNjJhR83EBFaZlCizkbIHBp3DN2T3_zfp8SA8s5ln1KUpfB-HaV1xsMSusH7172gyh1kcTuGgE_r4m1FK2zBi9NG_P_4NPhG8SruMtWPYWr-84glBmHVx6vX0FCZXs9u7-zfwd-wu |
| link.rule.ids | 314,780,784,12056,21388,27924,27925,31719,31720,33744,33745,43310,43805,73745,74302 |
| linkProvider | ProQuest |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV3db9QwDLfgJm17QcAYHBwQpD3AQ7d-pWmfEKBNB-xOp7FJe4vS1BUP6NrRu_8fO017TxuvTd2otmP_HMcxwImxslbkdzirGwdphnVA4Ii3w0JjIyQEknHt8GKZzW_SH7fy1m-4df5Y5WATnaGuGst75GeRyqRU5Dzl5_Yu4K5RnF31LTQewx7fnC4nsPf1fLm6GkMuAvsu5EpVGqRpHO9qeM5-jQ8_RvKTwwJBdJ93ug99Oi908RSeePgovvTyfgaPcP0c9hc-QX4EKxK7IJ3g0kThynj5gJNoakFAT2BLNqDlIV7P7W_zp3EdibHjN0jX2NQKohJ2uPH4BdxcnF9_mwe-aUJgCZltAk6XF6oObY5JWBWVDYuyNJExeZ0nGRK8qBCL3FJkitLkSW0VxpUyJJvC1kWZHMNk3azxFQgsbVqiKmvDHaorU4SFKSUaExq30KdwOjBLt_3dGHo8NMbc1cxdHUntuKujKaiBpXoo_CRThZ1fN52OdBfrsKdmYoKrTEqU-UjpoUHv8jVZ_v9NOhuEp3fzjNo0hQ_jMK0sTpeYNTZb944ig5gn4RRe9kIffzPOKBAjRr9--OPv4WB-vbjUl9-XP9_AIYGtrD-_NoPJ5u8W3xKg2ZTvvNb-A9Pl7uo |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV1Lj9QwDLZgVlpxQbx3YIEgcYBDmfSRpj0hHjtaHjsaASvtLUpTRxzQtNDZ_4-dpt3TwrWpG9V27C-xHQO8tE55TX6Ho7pZUpToEwJHfBwmrUuREEjJtcNnm_L0vPh8oS5i_tMQ0yonmxgMdds5PiNfpbpUSpPzVCsf0yK2H9dv-98Jd5DiSGtsp3ETDsgrymwBB-9PNttv8_aLgH_YfhW6SIoiy67qeVbf54evUvU64IIkvc5TXYdEg0da34HbEUqKd6Ps78IN3N2Dw7MYLL8PW1IBQfrBZYoilPRyspPovCDQJ7Ane9DzEK_t_qf91YXuxDjwG6R3bHYFUQk33X78AM7XJz8-nCaxgULiCKXtEw6d19pLV2Eu27p1sm4am1pb-SovkaBGi1hXjnapqGyVe6cxa7UlOdXO103-EBa7bodHILBxRYO68Za7Vbe2lrVtFForbVj0S3gzMcv04z0ZZk4gY-4a5q5JlQncNekS9MRSMxWBktnCIa6hwaRmyIwcqZmYoCuTEmU1U0aYMLp_Q17gf5MeT8IzV_PMmrWEF_MwrTIOndgddpfhHU3GscrlEh6NQp9_MytpU0aMfvzvjz-HQ1JY8_XT5ssTuEW4qxxT2Y5hsf9ziU8J2-ybZ1Fp_wIqkfMX |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+genetic+landscape+of+the+epileptic+encephalopathies+of+infancy+and+childhood&rft.jtitle=Lancet+neurology&rft.au=McTague%2C+Amy&rft.au=Howell%2C+Katherine+B&rft.au=Cross%2C+J+Helen&rft.au=Kurian%2C+Manju+A&rft.date=2016-03-01&rft.issn=1474-4422&rft.volume=15&rft.issue=3&rft.spage=304&rft.epage=316&rft_id=info:doi/10.1016%2FS1474-4422%2815%2900250-1&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_S1474_4422_15_00250_1 |
| thumbnail_m | http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=https%3A%2F%2Fcdn.clinicalkey.com%2Fck-thumbnails%2F14744422%2FS1474442216X00026%2Fcov150h.gif |