Autism Spectrum Disorder with Epilepsy: A Research Protocol for a Clinical and Genetic Study
Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidit...
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| Published in | Genes Vol. 15; no. 1; p. 61 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
Switzerland
MDPI AG
31.12.2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2073-4425 2073-4425 |
| DOI | 10.3390/genes15010061 |
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| Abstract | Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy. |
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| AbstractList | Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy. Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy.Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy. |
| Audience | Academic |
| Author | Bozzi, Yuri Canitano, Roberto |
| Author_xml | – sequence: 1 givenname: Roberto surname: Canitano fullname: Canitano, Roberto – sequence: 2 givenname: Yuri orcidid: 0000-0002-1496-9889 surname: Bozzi fullname: Bozzi, Yuri |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38254951$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.tins.2007.06.003 10.1111/epi.13272 10.1212/WNL.0b013e3181d6b852 10.1007/s10548-012-0258-6 10.1097/01376517-199708000-00005 10.1023/A:1010799115457 10.1586/14737175.5.2.165 10.3389/fpubh.2013.00031 10.1007/s10803-009-0924-z 10.1111/j.1469-7610.1997.tb01545.x 10.4088/JCP.v62n07a05 10.1017/S1461145705005791 10.1007/s10803-013-1952-2 10.1097/01.jcp.0000227703.72117.bc 10.1186/2040-2392-4-47 10.1016/j.neubiorev.2019.06.025 10.1016/j.yebeh.2019.07.037 10.1089/cap.2018.0121 10.1007/s00702-014-1265-4 10.3390/genes12111699 10.1016/j.spen.2017.10.004 10.1007/s10803-008-0646-7 10.1186/s12993-016-0105-0 10.1080/14656566.2022.2055461 10.1038/s41398-020-0778-x 10.1097/00004703-200208000-00006 10.1016/j.neuron.2016.10.013 10.1016/j.seizure.2007.08.004 10.1101/2023.09.11.557109 10.1007/s10803-017-3300-4 10.1212/WNL.58.3.428 10.1111/j.1528-1167.2009.02212.x 10.1016/j.yebeh.2014.12.022 10.1002/aur.2132 10.1080/136820310000104830 10.1038/npp.2009.202 10.1017/S0305000907008094 10.1002/aur.1750 10.1002/ana.24391 10.3389/fnmol.2021.749164 10.1002/ana.22124 10.1016/j.biopsych.2008.04.030 10.1016/j.neubiorev.2019.06.023 10.3389/fnhum.2014.00627 10.1111/epi.16755 10.1016/j.eplepsyres.2019.106161 10.1101/2020.02.11.944413 10.1002/ajmg.b.30575 10.1111/cge.13537 10.15585/mmwr.ss6503a1 10.1016/j.brainres.2010.11.078 10.1186/1866-1955-4-3 10.1007/s12311-008-0075-3 10.1177/13623613211045029 10.1371/journal.pone.0067797 10.1037/t15155-000 10.1177/0883073815601501 10.1037/t11538-000 10.1016/j.neuroscience.2020.02.043 10.1016/j.braindev.2010.04.010 10.1111/ejn.13595 10.1007/s10548-014-0395-1 10.3389/fnins.2016.00192 10.1016/j.yebeh.2018.12.011 10.1089/cap.2005.15.682 10.1002/aur.1881 10.1016/j.neuroimage.2013.04.030 10.1080/14737175.2019.1617699 10.1023/A:1005596502855 10.1038/s41576-020-0231-2 10.1007/s11065-014-9250-0 10.1176/appi.books.9780890425596 10.1016/j.psc.2020.11.005 10.1037/t15170-000 10.1038/nrg3934 10.1177/1073858406290375 10.1007/s10803-013-1888-6 10.1111/j.1528-1167.2012.03559.x 10.1007/BF02172145 |
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| References | Bozzi (ref_29) 2018; 47 Luyster (ref_65) 2007; 34 Fatemi (ref_16) 2008; 39 Oberman (ref_57) 2014; 8 ref_10 Glaze (ref_24) 2010; 74 Amiet (ref_27) 2013; 4 Lee (ref_33) 2015; 77 Lukmanji (ref_3) 2019; 98 Jeste (ref_43) 2015; 30 Charman (ref_64) 2003; 38 Rugino (ref_56) 2002; 23 Aman (ref_71) 1985; 89 Stosser (ref_81) 2018; 20 Maximo (ref_35) 2014; 24 ref_59 Fatemi (ref_15) 2010; 40 Frye (ref_21) 2016; 10 Lord (ref_62) 1994; 24 (ref_41) 2019; 103 Anagnostou (ref_50) 2006; 26 ref_61 Besag (ref_42) 2021; 44 Casanova (ref_13) 2006; 12 Michels (ref_78) 2013; 81 Tuchman (ref_38) 2009; 50 Zwaigenbaum (ref_40) 2019; 103 Hollander (ref_48) 2005; 9 ref_69 ref_67 ref_22 Filosi (ref_75) 2020; 10 ref_63 Christensen (ref_1) 2016; 65 Siper (ref_68) 2017; 10 Ye (ref_83) 2019; 155 Jacob (ref_28) 2015; 57 Spence (ref_11) 2015; 47 Tuchman (ref_8) 2017; 24 Childs (ref_54) 1997; 29 Llorente (ref_14) 2020; 445 Loo (ref_73) 2007; 147B Fatemi (ref_17) 2008; 8 Liechti (ref_72) 2012; 26 Ewen (ref_6) 2019; 12 Shephard (ref_79) 2017; 48 Casanova (ref_12) 2002; 58 Kitsune (ref_77) 2014; 28 Parikshak (ref_74) 2015; 16 Schaaf (ref_18) 2020; 21 Bodfish (ref_66) 2000; 30 Coleman (ref_47) 2019; 29 ref_76 Watkins (ref_46) 2022; 23 Neul (ref_23) 2010; 68 Betancur (ref_20) 2011; 1380 Hollander (ref_51) 2009; 35 Wang (ref_32) 2017; 11 Amiet (ref_5) 2008; 64 Pelc (ref_26) 2008; 17 Hellings (ref_52) 2005; 15 Belsito (ref_55) 2001; 31 Castronovo (ref_30) 2020; 97 Goodman (ref_60) 1997; 38 ref_82 Uchigashima (ref_31) 2021; 14 ref_80 Liu (ref_4) 2021; 26 Kooy (ref_25) 2007; 30 Rana (ref_49) 2005; 5 Lesca (ref_39) 2012; 53 (ref_7) 2010; 32 Frye (ref_45) 2013; 1 ref_2 Loussouarn (ref_44) 2019; 19 Milovanovic (ref_37) 2019; 92 Bishop (ref_70) 2012; 4 Mulligan (ref_36) 2013; 44 Ko (ref_9) 2016; 12 Hirota (ref_58) 2013; 44 Stefanski (ref_19) 2020; 62 Luckhardt (ref_34) 2014; 121 Hollander (ref_53) 2001; 62 |
| References_xml | – volume: 30 start-page: 425 year: 2007 ident: ref_25 article-title: The GABAA receptor: A novel target for treatment of fragile X? publication-title: Trends Neurosci. doi: 10.1016/j.tins.2007.06.003 – volume: 57 start-page: 182 year: 2015 ident: ref_28 article-title: Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders publication-title: Epilepsia doi: 10.1111/epi.13272 – volume: 74 start-page: 909 year: 2010 ident: ref_24 article-title: Epilepsy and the natural history of Rett syndrome publication-title: Neurology doi: 10.1212/WNL.0b013e3181d6b852 – volume: 26 start-page: 135 year: 2012 ident: ref_72 article-title: Diagnostic Value of Resting Electroencephalogram in Attention-Deficit/Hyperactivity Disorder Across the Lifespan publication-title: Brain Topogr. doi: 10.1007/s10548-012-0258-6 – volume: 29 start-page: 244 year: 1997 ident: ref_54 article-title: Valproic Acid Treatment of Epilepsy in Autistic Twins publication-title: J. Neurosci. Nurs. doi: 10.1097/01376517-199708000-00005 – volume: 20 start-page: 403 year: 2018 ident: ref_81 article-title: High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders publication-title: Anesthesia Analg. – volume: 31 start-page: 175 year: 2001 ident: ref_55 article-title: Lamotrigine therapy for autistic disorder: A randomized, double-blind, placebo-controlled trial publication-title: J. Autism Dev. Disord. doi: 10.1023/A:1010799115457 – volume: 5 start-page: 165 year: 2005 ident: ref_49 article-title: Divalproex sodium in the treatment of pediatric psychiatric disorders publication-title: Expert Rev. Neurother. doi: 10.1586/14737175.5.2.165 – volume: 89 start-page: 485 year: 1985 ident: ref_71 article-title: The aberrant behavior checklist: A behavior rating scale for the assessment of treatment effects publication-title: Am. J. Ment. Defic. – volume: 1 start-page: 31 year: 2013 ident: ref_45 article-title: A review of traditional and novel treatments for seizures in autism spectrum disorder: Findings from a systematic review and expert panel publication-title: Front. Public Health doi: 10.3389/fpubh.2013.00031 – volume: 40 start-page: 743 year: 2010 ident: ref_15 article-title: mRNA and protein levels for GABAAα4, α5, β1 and GABABR1 receptors are altered in brains from subjects with autism publication-title: J. Autism Dev. Disord. doi: 10.1007/s10803-009-0924-z – volume: 38 start-page: 581 year: 1997 ident: ref_60 article-title: The Strengths and Difficulties Questionnaire: A Research Note publication-title: J. Child Psychol. Psychiatry doi: 10.1111/j.1469-7610.1997.tb01545.x – volume: 62 start-page: 530 year: 2001 ident: ref_53 article-title: An open trial of divalproex sodium in autism spectrum disorders publication-title: J. Clin. Psychiatry doi: 10.4088/JCP.v62n07a05 – volume: 9 start-page: 209 year: 2005 ident: ref_48 article-title: Divalproex sodium vs. placebo in the treatment of repetitive behaviours in autism spectrum disorder publication-title: Int. J. Neuropsychopharmacol. doi: 10.1017/S1461145705005791 – ident: ref_61 – volume: 44 start-page: 948 year: 2013 ident: ref_58 article-title: Antiepileptic medications in autism spectrum disorder: A systematic review and meta-analysis publication-title: J. Autism Dev. Disord. doi: 10.1007/s10803-013-1952-2 – volume: 26 start-page: 444 year: 2006 ident: ref_50 article-title: Divalproex versus placebo for the prevention of irritability associated with fluoxetine treatment in autism spectrum disorder publication-title: J. Clin. Psychopharmacol. doi: 10.1097/01.jcp.0000227703.72117.bc – volume: 4 start-page: 47 year: 2013 ident: ref_27 article-title: Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? publication-title: Mol. Autism doi: 10.1186/2040-2392-4-47 – volume: 103 start-page: 399 year: 2019 ident: ref_40 article-title: Perspectives on regressive onset in autism: Looking forward on looking back publication-title: Neurosci. Biobehav. Rev. doi: 10.1016/j.neubiorev.2019.06.025 – volume: 98 start-page: 238 year: 2019 ident: ref_3 article-title: The co-occurrence of epilepsy and autism: A systematic review publication-title: Epilepsy Behav. doi: 10.1016/j.yebeh.2019.07.037 – volume: 29 start-page: 107 year: 2019 ident: ref_47 article-title: Rating of the Effectiveness of 26 Psychiatric and Seizure Medications for Autism Spectrum Disorder: Results of a National Survey publication-title: J. Child Adolesc. Psychopharmacol. doi: 10.1089/cap.2018.0121 – volume: 121 start-page: 1129 year: 2014 ident: ref_34 article-title: Elucidating the neurophysiological underpinnings of autism spectrum disorder: New developments publication-title: J. Neural Transm. doi: 10.1007/s00702-014-1265-4 – ident: ref_80 doi: 10.3390/genes12111699 – volume: 24 start-page: 292 year: 2017 ident: ref_8 article-title: What is the relationship between autism spectrum disorders and epilepsy? publication-title: Semin. Pediatr. Neurol. doi: 10.1016/j.spen.2017.10.004 – volume: 39 start-page: 223 year: 2008 ident: ref_16 article-title: GABA(A) receptor downregulation in brains of subjects with autism publication-title: J. Autism Dev. Disord. doi: 10.1007/s10803-008-0646-7 – volume: 12 start-page: 20 year: 2016 ident: ref_9 article-title: The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum publication-title: Behav. Brain Funct. doi: 10.1186/s12993-016-0105-0 – volume: 23 start-page: 841 year: 2022 ident: ref_46 article-title: A review of the pharmacotherapeutic considerations for managing epilepsy in people with autism publication-title: Expert Opin. Pharmacother. doi: 10.1080/14656566.2022.2055461 – volume: 10 start-page: 106 year: 2020 ident: ref_75 article-title: Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder publication-title: Transl. Psychiatry doi: 10.1038/s41398-020-0778-x – volume: 23 start-page: 225 year: 2002 ident: ref_56 article-title: Levetiracetam in Autistic Children: An Open-Label Study publication-title: J. Dev. Behav. Pediatr. doi: 10.1097/00004703-200208000-00006 – ident: ref_22 doi: 10.1016/j.neuron.2016.10.013 – volume: 17 start-page: 211 year: 2008 ident: ref_26 article-title: Epilepsy in Angelman syndrome publication-title: Seizure doi: 10.1016/j.seizure.2007.08.004 – ident: ref_76 doi: 10.1101/2023.09.11.557109 – ident: ref_69 – volume: 48 start-page: 110 year: 2017 ident: ref_79 article-title: Resting-State Neurophysiological Activity Patterns in Young People with ASD, ADHD, and ASD + ADHD publication-title: J. Autism Dev. Disord. doi: 10.1007/s10803-017-3300-4 – volume: 58 start-page: 428 year: 2002 ident: ref_12 article-title: Minicolumnar pathology in autism publication-title: Neurology doi: 10.1212/WNL.58.3.428 – volume: 50 start-page: 18 year: 2009 ident: ref_38 article-title: CSWS-related autistic regression versus autistic regression without CSWS publication-title: Epilepsia doi: 10.1111/j.1528-1167.2009.02212.x – volume: 47 start-page: 183 year: 2015 ident: ref_11 article-title: Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy publication-title: Epilepsy Behav. doi: 10.1016/j.yebeh.2014.12.022 – volume: 12 start-page: 1251 year: 2019 ident: ref_6 article-title: Epilepsy and Autism Severity: A Study of 6,975 Children publication-title: Autism Res. doi: 10.1002/aur.2132 – volume: 38 start-page: 265 year: 2003 ident: ref_64 article-title: Predicting language outcome in infants with autism and pervasive developmental disorder publication-title: Int. J. Lang. Commun. Disord. doi: 10.1080/136820310000104830 – volume: 35 start-page: 990 year: 2009 ident: ref_51 article-title: Divalproex sodium vs. placebo for the treatment of irritability in children and adolescents with autism spectrum disorders publication-title: Neuropsychopharmacology doi: 10.1038/npp.2009.202 – volume: 34 start-page: 623 year: 2007 ident: ref_65 article-title: Characterizing communicative development in children referred for Autism Spectrum Disorders using the MacArthur-Bates Communicative Development Inventory (CDI) publication-title: J. Child Lang. doi: 10.1017/S0305000907008094 – volume: 10 start-page: 1133 year: 2017 ident: ref_68 article-title: A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD publication-title: Autism Res. doi: 10.1002/aur.1750 – volume: 77 start-page: 866 year: 2015 ident: ref_33 article-title: Atypical functional brain connectivity during rest in autism spectrum disorders publication-title: Ann. Neurol. doi: 10.1002/ana.24391 – volume: 14 start-page: 749164 year: 2021 ident: ref_31 article-title: Neuroligin-3: A Circuit-Specific Synapse Organizer That Shapes Normal Function and Autism Spectrum Disorder-Associated Dysfunction publication-title: Front. Mol. Neurosci. doi: 10.3389/fnmol.2021.749164 – volume: 68 start-page: 944 year: 2010 ident: ref_23 article-title: Rett syndrome: Revised diagnostic criteria and nomenclature publication-title: Ann. Neurol. doi: 10.1002/ana.22124 – volume: 64 start-page: 577 year: 2008 ident: ref_5 article-title: Epilepsy in autism is associated with intellectual disability and gender: Evidence from a meta-analysis publication-title: Biol. Psychiatry doi: 10.1016/j.biopsych.2008.04.030 – volume: 103 start-page: 29 year: 2019 ident: ref_41 article-title: Regression in autism is far more common than once thought publication-title: Neurosci. Biobehav. Rev. doi: 10.1016/j.neubiorev.2019.06.023 – volume: 8 start-page: 627 year: 2014 ident: ref_57 article-title: Modulation of corticospinal excitability by transcranial magnetic stimulation in children and adolescents with autism spectrum disorder publication-title: Front. Hum. Neurosci. doi: 10.3389/fnhum.2014.00627 – volume: 62 start-page: 143 year: 2020 ident: ref_19 article-title: Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis publication-title: Epilepsia doi: 10.1111/epi.16755 – volume: 155 start-page: 106161 year: 2019 ident: ref_83 article-title: Somatic mutation: The hidden genetics of brain malformations and focal epilepsies publication-title: Epilepsy Res. doi: 10.1016/j.eplepsyres.2019.106161 – ident: ref_82 doi: 10.1101/2020.02.11.944413 – volume: 147B start-page: 107 year: 2007 ident: ref_73 article-title: Preliminary report of familial clustering of EEG measures in ADHD publication-title: Am. J. Med Genet. Part B: Neuropsychiatr. Genet. doi: 10.1002/ajmg.b.30575 – volume: 97 start-page: 125 year: 2020 ident: ref_30 article-title: Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review publication-title: Clin. Genet. doi: 10.1111/cge.13537 – volume: 65 start-page: 1 year: 2016 ident: ref_1 article-title: Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2012 publication-title: MMWR Surveill. Summ. doi: 10.15585/mmwr.ss6503a1 – volume: 1380 start-page: 42 year: 2011 ident: ref_20 article-title: Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting publication-title: Brain Res. doi: 10.1016/j.brainres.2010.11.078 – volume: 4 start-page: 3 year: 2012 ident: ref_70 article-title: Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: A longitudinal study of precursors of specific language impairment publication-title: J. Neurodev. Disord. doi: 10.1186/1866-1955-4-3 – volume: 8 start-page: 64 year: 2008 ident: ref_17 article-title: Expression of GABA(B) receptors is altered in brains of subjects with autism publication-title: Cerebellum doi: 10.1007/s12311-008-0075-3 – volume: 26 start-page: 33 year: 2021 ident: ref_4 article-title: Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis publication-title: Autism doi: 10.1177/13623613211045029 – ident: ref_10 doi: 10.1371/journal.pone.0067797 – ident: ref_67 doi: 10.1037/t15155-000 – volume: 30 start-page: 1963 year: 2015 ident: ref_43 article-title: Autism spectrum disorder and epilepsy: Two sides of the same coin? publication-title: J. Child Neurol. doi: 10.1177/0883073815601501 – ident: ref_63 doi: 10.1037/t11538-000 – volume: 445 start-page: 69 year: 2020 ident: ref_14 article-title: Neurobiological Mechanisms of Autism Spectrum Disorder and Epilepsy, Insights from Animal Models publication-title: Neuroscience doi: 10.1016/j.neuroscience.2020.02.043 – volume: 32 start-page: 731 year: 2010 ident: ref_7 article-title: Epilepsy and autism spectrum disorders: Are there common developmental mechanisms? publication-title: Brain Dev. doi: 10.1016/j.braindev.2010.04.010 – volume: 47 start-page: 534 year: 2018 ident: ref_29 article-title: Neurobiological bases of autism-epilepsy comorbidity: A focus on excita-tion/inhibition imbalance publication-title: Eur. J. Neurosci. doi: 10.1111/ejn.13595 – volume: 28 start-page: 580 year: 2014 ident: ref_77 article-title: A Matter of Time: The Influence of Recording Context on EEG Spectral Power in Adolescents and Young Adults with ADHD publication-title: Brain Topogr. doi: 10.1007/s10548-014-0395-1 – volume: 10 start-page: 192 year: 2016 ident: ref_21 article-title: Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder publication-title: Front. Neurosci. doi: 10.3389/fnins.2016.00192 – volume: 92 start-page: 45 year: 2019 ident: ref_37 article-title: Epilepsy and interictal epileptiform activity in patients with autism spectrum disorders publication-title: Epilepsy Behav. doi: 10.1016/j.yebeh.2018.12.011 – volume: 15 start-page: 682 year: 2005 ident: ref_52 article-title: A double-blind, placebo-controlled study of valproate for aggression in youth with pervasive developmental disorders publication-title: J. Child Adolesc. Psychopharmacol. doi: 10.1089/cap.2005.15.682 – volume: 11 start-page: 37 year: 2017 ident: ref_32 article-title: Neurexin gene family variants as risk factors for autism spectrum disorder publication-title: Autism Res. doi: 10.1002/aur.1881 – volume: 81 start-page: 231 year: 2013 ident: ref_78 article-title: Developmental changes of functional and directed resting-state connectivities associated with neuronal oscillations in EEG publication-title: NeuroImage doi: 10.1016/j.neuroimage.2013.04.030 – volume: 19 start-page: 579 year: 2019 ident: ref_44 article-title: Autistic spectrum disorder and epilepsy: Diagnostic challenges publication-title: Expert Rev. Neurother. doi: 10.1080/14737175.2019.1617699 – volume: 30 start-page: 237 year: 2000 ident: ref_66 article-title: Varieties of repetitive behavior in autism: Comparisons to mental retardation publication-title: J. Autism Dev. Disord. doi: 10.1023/A:1005596502855 – volume: 21 start-page: 367 year: 2020 ident: ref_18 article-title: A framework for an evidence-based gene list relevant to autism spectrum disorder publication-title: Nat. Rev. Genet. doi: 10.1038/s41576-020-0231-2 – volume: 24 start-page: 16 year: 2014 ident: ref_35 article-title: The implications of brain connectivity in the neuropsychology of autism publication-title: Neuropsychol. Rev. doi: 10.1007/s11065-014-9250-0 – ident: ref_2 doi: 10.1176/appi.books.9780890425596 – volume: 44 start-page: 51 year: 2021 ident: ref_42 article-title: Seizures and epilepsy in autism spectrum disorder publication-title: Psychiatr. Clin. N. Am. doi: 10.1016/j.psc.2020.11.005 – ident: ref_59 doi: 10.1037/t15170-000 – volume: 16 start-page: 441 year: 2015 ident: ref_74 article-title: Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3934 – volume: 12 start-page: 435 year: 2006 ident: ref_13 article-title: Neuropathological and genetic findings in autism: The significance of a putative minicolumnopathy publication-title: Neuroscientist doi: 10.1177/1073858406290375 – volume: 44 start-page: 452 year: 2013 ident: ref_36 article-title: Incidence and behavioral correlates of epileptiform abnormalities in autism spectrum disorders publication-title: J. Autism Dev. Disord. doi: 10.1007/s10803-013-1888-6 – volume: 53 start-page: 1526 year: 2012 ident: ref_39 article-title: Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism publication-title: Epilepsia doi: 10.1111/j.1528-1167.2012.03559.x – volume: 24 start-page: 659 year: 1994 ident: ref_62 article-title: Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders publication-title: J. Autism Dev. Disord. doi: 10.1007/BF02172145 |
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