Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, , , and , have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of...

Full description

Saved in:
Bibliographic Details
Published inFrontiers in molecular neuroscience Vol. 15; p. 892820
Main Authors Maksemous, Neven, Blayney, Claire D, Sutherland, Heidi G, Smith, Robert A, Lea, Rod A, Tran, Kim Ngan, Ibrahim, Omar, McArthur, Jeffrey R, Haupt, Larisa M, Cader, M Zameel, Finol-Urdaneta, Rocio K, Adams, David J, Griffiths, Lyn R
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Research Foundation 19.07.2022
Frontiers Media S.A
Subjects
Acidosis
Alkalosis
Ataxia
CACNA1I
Calcium channels
Calcium channels (T-type)
Calcium channels (voltage-gated)
Cav3.3
Electrophysiology
familial hemiplegic migraine
Gene expression
Genomics
Headache
hemiplegic migraine
ion channel
Kinetics
Migraine
migraine genetics
Molecular Neuroscience
Mutation
Proteins
Sodium channels (voltage-gated)
Statistical analysis
Australia
United States > US
CACNA1I
Cav3.3
familial hemiplegic migraine
voltage gated calcium channels
ion channel
hemiplegic migraine
T-type calcium channels
migraine genetics
Online AccessGet full text

Cover

Abstract Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, , , and , have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of other genes. Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the gene encoding the T-type calcium channel Cav3.3. Burden testing of variants showed a statistically significant increase in allelic burden in the HM case group compared to gnomAD (OR = 2.30, = 0.00005) and the UK Biobank (OR = 2.32, = 0.0004) databases. Dysfunction in T-type calcium channels, including Cav3.3, has been implicated in a range of neurological conditions, suggesting a potential role in HM. Using patch-clamp electrophysiology, we compared the biophysical properties of five Cav3.3 variants (p.R111G, p.M128L, p.D302G, p.R307H, and p.Q1158H) to wild-type (WT) channels expressed in HEK293T cells. We observed numerous functional alterations across the channels with Cav3.3-Q1158H showing the greatest differences compared to WT channels, including reduced current density, right-shifted voltage dependence of activation and inactivation, and slower current kinetics. Interestingly, we also found significant differences in the conductance properties exhibited by the Cav3.3-R307H and -Q1158H variants compared to WT channels under conditions of acidosis and alkalosis. In light of these data, we suggest that rare variants in may contribute to HM etiology.
AbstractList Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A, SCN1A, and ATP1A2, have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of other genes. Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the CACNA1I gene encoding the T-type calcium channel Cav3.3. Burden testing of CACNA1I variants showed a statistically significant increase in allelic burden in the HM case group compared to gnomAD (OR = 2.30, P = 0.00005) and the UK Biobank (OR = 2.32, P = 0.0004) databases. Dysfunction in T-type calcium channels, including Cav3.3, has been implicated in a range of neurological conditions, suggesting a potential role in HM. Using patch-clamp electrophysiology, we compared the biophysical properties of five Cav3.3 variants (p.R111G, p.M128L, p.D302G, p.R307H, and p.Q1158H) compared to wild-type (WT) channels expressed in HEK293T cells. We observed numerous functional alterations across the channels with Cav3.3-Q1158H showing the greatest differences compared to WT channels, including reduced current density, right-shifted voltage dependence of activation and inactivation, and slower current kinetics. Interestingly, we also found significant differences in conductance properties exhibited by the Cav3.3-R307H and -Q1158H variants compared to WT channels under conditions of acidosis and alkalosis. In light of these data, we suggest that rare variants in CACNA1I may contribute to HM aetiology.
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, , , and , have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of other genes. Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the gene encoding the T-type calcium channel Cav3.3. Burden testing of variants showed a statistically significant increase in allelic burden in the HM case group compared to gnomAD (OR = 2.30, = 0.00005) and the UK Biobank (OR = 2.32, = 0.0004) databases. Dysfunction in T-type calcium channels, including Cav3.3, has been implicated in a range of neurological conditions, suggesting a potential role in HM. Using patch-clamp electrophysiology, we compared the biophysical properties of five Cav3.3 variants (p.R111G, p.M128L, p.D302G, p.R307H, and p.Q1158H) to wild-type (WT) channels expressed in HEK293T cells. We observed numerous functional alterations across the channels with Cav3.3-Q1158H showing the greatest differences compared to WT channels, including reduced current density, right-shifted voltage dependence of activation and inactivation, and slower current kinetics. Interestingly, we also found significant differences in the conductance properties exhibited by the Cav3.3-R307H and -Q1158H variants compared to WT channels under conditions of acidosis and alkalosis. In light of these data, we suggest that rare variants in may contribute to HM etiology.
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A , SCN1A , and ATP1A2 , have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of other genes. Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the CACNA1I gene encoding the T-type calcium channel Cav3.3. Burden testing of CACNA1I variants showed a statistically significant increase in allelic burden in the HM case group compared to gnomAD (OR = 2.30, P = 0.00005) and the UK Biobank (OR = 2.32, P = 0.0004) databases. Dysfunction in T-type calcium channels, including Cav3.3, has been implicated in a range of neurological conditions, suggesting a potential role in HM. Using patch-clamp electrophysiology, we compared the biophysical properties of five Cav3.3 variants (p.R111G, p.M128L, p.D302G, p.R307H, and p.Q1158H) to wild-type (WT) channels expressed in HEK293T cells. We observed numerous functional alterations across the channels with Cav3.3-Q1158H showing the greatest differences compared to WT channels, including reduced current density, right-shifted voltage dependence of activation and inactivation, and slower current kinetics. Interestingly, we also found significant differences in the conductance properties exhibited by the Cav3.3-R307H and -Q1158H variants compared to WT channels under conditions of acidosis and alkalosis. In light of these data, we suggest that rare variants in CACNA1I may contribute to HM etiology.
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A, SCN1A, and ATP1A2, have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting the involvement of other genes. Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the CACNA1I gene encoding the T-type calcium channel Cav3.3. Burden testing of CACNA1I variants showed a statistically significant increase in allelic burden in the HM case group compared to gnomAD (OR = 2.30, P = 0.00005) and the UK Biobank (OR = 2.32, P = 0.0004) databases. Dysfunction in T-type calcium channels, including Cav3.3, has been implicated in a range of neurological conditions, suggesting a potential role in HM. Using patch-clamp electrophysiology, we compared the biophysical properties of five Cav3.3 variants (p.R111G, p.M128L, p.D302G, p.R307H, and p.Q1158H) to wild-type (WT) channels expressed in HEK293T cells. We observed numerous functional alterations across the channels with Cav3.3-Q1158H showing the greatest differences compared to WT channels, including reduced current density, right-shifted voltage dependence of activation and inactivation, and slower current kinetics. Interestingly, we also found significant differences in the conductance properties exhibited by the Cav3.3-R307H and -Q1158H variants compared to WT channels under conditions of acidosis and alkalosis. In light of these data, we suggest that rare variants in CACNA1I may contribute to HM etiology.
Author Smith, Robert A
Sutherland, Heidi G
Lea, Rod A
McArthur, Jeffrey R
Ibrahim, Omar
Griffiths, Lyn R
Blayney, Claire D
Adams, David J
Haupt, Larisa M
Tran, Kim Ngan
Maksemous, Neven
Finol-Urdaneta, Rocio K
Cader, M Zameel
AuthorAffiliation 2 Illawarra Health and Medical Research Institute, University of Wollongong , Wollongong, NSW , Australia
1 Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology , Brisbane, QLD , Australia
3 Weatherall Institute of Molecular Medicine, University of Oxford , Oxford , United Kingdom
AuthorAffiliation_xml – name: 1 Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology , Brisbane, QLD , Australia
– name: 2 Illawarra Health and Medical Research Institute, University of Wollongong , Wollongong, NSW , Australia
– name: 3 Weatherall Institute of Molecular Medicine, University of Oxford , Oxford , United Kingdom
Author_xml – sequence: 1
  givenname: Neven
  surname: Maksemous
  fullname: Maksemous, Neven
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 2
  givenname: Claire D
  surname: Blayney
  fullname: Blayney, Claire D
  organization: Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, NSW, Australia
– sequence: 3
  givenname: Heidi G
  surname: Sutherland
  fullname: Sutherland, Heidi G
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 4
  givenname: Robert A
  surname: Smith
  fullname: Smith, Robert A
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 5
  givenname: Rod A
  surname: Lea
  fullname: Lea, Rod A
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 6
  givenname: Kim Ngan
  surname: Tran
  fullname: Tran, Kim Ngan
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 7
  givenname: Omar
  surname: Ibrahim
  fullname: Ibrahim, Omar
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 8
  givenname: Jeffrey R
  surname: McArthur
  fullname: McArthur, Jeffrey R
  organization: Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, NSW, Australia
– sequence: 9
  givenname: Larisa M
  surname: Haupt
  fullname: Haupt, Larisa M
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
– sequence: 10
  givenname: M Zameel
  surname: Cader
  fullname: Cader, M Zameel
  organization: Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
– sequence: 11
  givenname: Rocio K
  surname: Finol-Urdaneta
  fullname: Finol-Urdaneta, Rocio K
  organization: Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, NSW, Australia
– sequence: 12
  givenname: David J
  surname: Adams
  fullname: Adams, David J
  organization: Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong, NSW, Australia
– sequence: 13
  givenname: Lyn R
  surname: Griffiths
  fullname: Griffiths, Lyn R
  organization: Genomics Research Centre, The Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
BackLink https://www.ncbi.nlm.nih.gov/pubmed/35928792$$D View this record in MEDLINE/PubMed
BookMark eNpdkU9v1DAQxS1URP_AB-CCInHhsltnHDueC9ISWrpSaS9wthzHDl4l9uIkK_Xbk90tVdvTWDNvfvKbd05OQgyWkI85XTIm8dKFPnZLoABLiSCBviFnuRCw4BTx5Nn7lJwPw4ZSAYKzd-SU8VleIpyRb-uws8PoWz36GLLosmpV3a3ydVbpHVuy7PvD4KZgDlMfshvb-21nW2-yn75N2gf7nrx1uhvsh8d6QX5fX_2qbha39z_W1ep2YQpk44LnUKDVtDYOed0AFE5wY-raCsAGytzwsikdom6cs3VjnJV1wZ3TKFA2wC7I-shtot6obfK9Tg8qaq8OjZhapdPoTWdVIZk1UIKmBS1mq5JzlJZrQEqhLt3M-npkbae6t42xYUy6ewF9OQn-j2rjTiErZiP5DPjyCEjx7zRfUPV-MLbrdLBxGhQIxJJyIcpZ-vmVdBOnFOZT7VU5RyHkHpgfVSbFYUjWPX0mp2qftjqkrfZpq2Pa886n5y6eNv7Hy_4BIS6ndQ
CitedBy_id crossref_primary_10_1186_s13041_023_01058_2
crossref_primary_10_1016_S1474_4422_24_00026_7
crossref_primary_10_1016_j_jpain_2024_03_010
crossref_primary_10_1007_s12035_023_03255_5
crossref_primary_10_3390_diseases12050090
crossref_primary_10_3390_genes15040443
crossref_primary_10_1111_jnc_15983
crossref_primary_10_7554_eLife_74040
Cites_doi 10.1186/2040-2392-3-18
10.1074/jbc.M117.807925
10.1152/physrev.00010.2012
10.1177/0333102418761041
10.1083/jcb.202001064
10.1038/srep34233
10.1093/nar/gkaa275
10.1111/j.1469-7793.2000.00253.x
10.1074/jbc.M112.434266
10.1177/0333102411415878
10.1093/brain/awab101
10.1113/jphysiol.2004.076273
10.1101/pdb.prot095430
10.1007/s12264-012-1248-0
10.1073/pnas.192242399
10.1016/S0072-9752(10)97012-7
10.1038/nmeth.2019
10.1073/pnas.1105115108
10.1074/jbc.M611809200
10.1046/j.1460-9568.1999.00849.x
10.1152/physrev.00018.2002
10.1074/jbc.RA120.012668
10.1177/0333102419867280
10.1093/brain/awab443
10.1177/0333102418791595
10.1101/gr.092619.109
10.1085/jgp.200609498
10.1212/WNL.0000000000012947
10.1371/journal.pcbi.1008997
10.1523/JNEUROSCI.19-05-01610.1999
10.1111/j.1468-2982.2004.00788.x
10.1046/j.1468-2982.2002.00371.x
10.1016/S1474-4422(11)70048-5
10.1016/S0006-3495(00)76738-5
10.1523/JNEUROSCI.15-04-03110.1995
10.1111/head.13935
10.1016/j.neuron.2007.01.021
10.1038/nmeth0810-575
10.1016/j.bbrc.2006.07.112
10.1007/s00424-020-02429-7
10.1038/ng.2892
10.1126/science.aap8757
10.1212/WNL.0000000000004966
10.1523/JNEUROSCI.3285-11.2011
10.1085/jgp.86.1.1
10.1046/j.1460-9568.1999.00841.x
10.1101/gr.176601
10.3389/fphys.2016.00239
10.1093/brain/awy145
10.1038/s41398-020-0685-1
10.1126/scitranslmed.aay6848
10.1126/science.2578071
10.1038/nmeth0410-248
10.1016/j.neuron.2018.04.014
10.1073/pnas.1408609111
10.1007/s00439-009-0684-z
10.1016/j.neuron.2014.03.016
10.1111/j.1526-4610.2007.00969.x
10.1016/j.jmoldx.2019.07.001
10.1007/s10194-010-0201-8
10.1002/humu.22225
10.1152/jn.2001.85.3.1051
10.1001/archneur.65.6.709
10.1038/nature19057
10.3390/cells9112368
10.1177/0333102420919098
10.1523/JNEUROSCI.3572-15.2018
10.1186/s10194-019-1017-9
10.3389/fneur.2021.661408
ContentType Journal Article
Copyright Copyright © 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths.
2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Copyright © 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths. 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths
Copyright_xml – notice: Copyright © 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths.
– notice: 2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
– notice: Copyright © 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths. 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths
DBID NPM
AAYXX
CITATION
3V.
7TK
7XB
88I
8FE
8FH
8FK
ABUWG
AFKRA
AZQEC
BBNVY
BENPR
BHPHI
CCPQU
DWQXO
GNUQQ
HCIFZ
LK8
M2P
M7P
PIMPY
PQEST
PQQKQ
PQUKI
PRINS
Q9U
7X8
5PM
DOA
DOI 10.3389/fnmol.2022.892820
DatabaseName PubMed
CrossRef
ProQuest Central (Corporate)
Neurosciences Abstracts
ProQuest Central (purchase pre-March 2016)
Science Database (Alumni Edition)
ProQuest SciTech Collection
ProQuest Natural Science Collection
ProQuest Central (Alumni) (purchase pre-March 2016)
ProQuest Central (Alumni)
ProQuest Central UK/Ireland
ProQuest Central Essentials
Biological Science Collection
AUTh Library subscriptions: ProQuest Central
ProQuest Natural Science Collection
ProQuest One Community College
ProQuest Central
ProQuest Central Student
SciTech Premium Collection (Proquest) (PQ_SDU_P3)
Biological Sciences
ProQuest Science Journals
Biological Science Database
ProQuest - Publicly Available Content Database
ProQuest One Academic Eastern Edition (DO NOT USE)
ProQuest One Academic
ProQuest One Academic UKI Edition
ProQuest Central China
ProQuest Central Basic
MEDLINE - Academic
PubMed Central (Full Participant titles)
Open Access: DOAJ - Directory of Open Access Journals
DatabaseTitle PubMed
CrossRef
Publicly Available Content Database
ProQuest Science Journals (Alumni Edition)
ProQuest Central Student
ProQuest Biological Science Collection
ProQuest Central Basic
ProQuest Central Essentials
ProQuest Science Journals
ProQuest One Academic Eastern Edition
ProQuest Central (Alumni Edition)
SciTech Premium Collection
ProQuest One Community College
ProQuest Natural Science Collection
Biological Science Database
ProQuest SciTech Collection
Neurosciences Abstracts
ProQuest Central China
ProQuest Central
ProQuest One Academic UKI Edition
Natural Science Collection
ProQuest Central Korea
Biological Science Collection
ProQuest One Academic
ProQuest Central (Alumni)
MEDLINE - Academic
DatabaseTitleList Publicly Available Content Database
PubMed
CrossRef
Database_xml – sequence: 1
  dbid: DOA
  name: Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  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: 3
  dbid: BENPR
  name: AUTh Library subscriptions: ProQuest Central
  url: https://www.proquest.com/central
  sourceTypes: Aggregation Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1662-5099
EndPage 892820
ExternalDocumentID oai_doaj_org_article_483ec272a040492885598e5a29002b7f
10_3389_fnmol_2022_892820
35928792
Genre Journal Article
GeographicLocations Australia
United States--US
GeographicLocations_xml – name: United States--US
– name: Australia
GrantInformation_xml – fundername: Medical Research Council
  grantid: MC_PC_17228
– fundername: Medical Research Council
  grantid: MC_QA137853
– fundername: ;
GroupedDBID ---
29H
2WC
53G
5GY
5VS
88I
8FE
8FH
9T4
AAFWJ
ABUWG
ACGFO
ACGFS
ACPRK
ACXDI
ADBBV
ADRAZ
AEGXH
AENEX
AFKRA
AFPKN
AIAGR
ALMA_UNASSIGNED_HOLDINGS
AOIJS
AZQEC
BAWUL
BBNVY
BCNDV
BENPR
BHPHI
BPHCQ
C1A
CCPQU
CS3
DIK
DWQXO
E3Z
EMOBN
F5P
GNUQQ
GROUPED_DOAJ
GX1
HCIFZ
HYE
IAO
IEA
IHR
IPNFZ
KQ8
LK8
M2P
M48
M7P
M~E
NPM
O5R
O5S
OK1
PGMZT
PIMPY
PQQKQ
PROAC
RIG
RNS
RPM
TR2
AAYXX
CITATION
3V.
7TK
7XB
8FK
PQEST
PQUKI
PRINS
Q9U
7X8
5PM
ID FETCH-LOGICAL-c493t-51249ea0bcf95bd224f65ccbbe629d271c57d7f99adffebdcfe8b45ffa9698d23
IEDL.DBID RPM
ISSN 1662-5099
IngestDate Tue Oct 22 15:14:10 EDT 2024
Tue Sep 17 21:15:02 EDT 2024
Fri Oct 25 02:02:12 EDT 2024
Thu Oct 10 16:41:50 EDT 2024
Thu Sep 26 18:14:43 EDT 2024
Sat Sep 28 08:19:13 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Keywords CACNA1I
Cav3.3
familial hemiplegic migraine
voltage gated calcium channels
ion channel
hemiplegic migraine
T-type calcium channels
migraine genetics
Language English
License Copyright © 2022 Maksemous, Blayney, Sutherland, Smith, Lea, Tran, Ibrahim, McArthur, Haupt, Cader, Finol-Urdaneta, Adams and Griffiths.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c493t-51249ea0bcf95bd224f65ccbbe629d271c57d7f99adffebdcfe8b45ffa9698d23
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Edited by: Bernard Attali, Tel Aviv University, Israel
Reviewed by: Philippe Lory, Université Montpellier, CNRS, INSERM, France; David M. Ritter, Cincinnati Children’s Hospital Medical Center, United States
These authors have contributed equally to this work and share first authorship
This article was submitted to Brain Disease Mechanisms, a section of the journal Frontiers in Molecular Neuroscience
OpenAccessLink https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345121/
PMID 35928792
PQID 2691596681
PQPubID 2046457
PageCount 1
ParticipantIDs doaj_primary_oai_doaj_org_article_483ec272a040492885598e5a29002b7f
pubmedcentral_primary_oai_pubmedcentral_nih_gov_9345121
proquest_miscellaneous_2699705667
proquest_journals_2691596681
crossref_primary_10_3389_fnmol_2022_892820
pubmed_primary_35928792
PublicationCentury 2000
PublicationDate 2022-07-19
PublicationDateYYYYMMDD 2022-07-19
PublicationDate_xml – month: 07
  year: 2022
  text: 2022-07-19
  day: 19
PublicationDecade 2020
PublicationPlace Switzerland
PublicationPlace_xml – name: Switzerland
– name: Lausanne
PublicationTitle Frontiers in molecular neuroscience
PublicationTitleAlternate Front Mol Neurosci
PublicationYear 2022
Publisher Frontiers Research Foundation
Frontiers Media S.A
Publisher_xml – name: Frontiers Research Foundation
– name: Frontiers Media S.A
References Lee (B39) 2014; 111
Sutherland (B63) 2020; 9
Shah (B59) 2001; 85
Hildebrand (B30) 2007; 282
Hansen (B28) 2011; 31
Heyne (B72) 2020; 12
Chun (B14) 2009; 19
de Vries (B18) 2009; 126
Gobbo (B25) 2021; 12
Ophoff (B51) 1997
Li (B41) 2012; 28
Perez-Reyes (B53) 2003; 83
Zimmermann (B71) 2006; 348
Simms (B61) 2014; 82
Chemin (B12) 2017; 292
Adzhubei (B1) 2010; 7
Kircher (B35) 2014; 46
May (B47) 2019; 39
Gormley (B26) 2018; 98
Lek (B40) 2016; 536
Noseda (B49) 2011; 31
Wober (B69) 2010; 97
Bean (B7) 1985; 86
Jacquerie (B33) 2021; 17
Barbanti (B6) 2020; 60
Schindelin (B57) 2012; 9
Ghoshal (B23) 2020; 10
Lykke Thomsen (B45) 2002; 22
Brainstorm (B10) 2018; 360
Wadel (B67) 2007; 53
Baez-Nieto (B5) 2021; 145
Schwarz (B58) 2010; 7
Tsakiridou (B66) 1995; 15
Chemin (B11) 2018; 141
Claydon (B15) 2000
Russell (B56) 2011; 10
Finol-Urdaneta (B21) 2006; 128
Klockner (B36) 1999; 11
Thomsen (B64) 2004; 24
Younis (B70) 2019; 39
Odegard (B50) 2010; 11
Cottrell (B16) 2018; 38
Lory (B43) 2020; 472
Iftinca (B32) 2011; 4
Pelzer (B52) 2018; 90
El Ghaleb (B20) 2021; 144
Tottene (B65) 2002; 99
Lord (B42) 2020; 219
Astori (B4) 2011; 108
Cheong (B13) 2013; 93
Kozlov (B37) 1999; 11
Wang (B68) 2020; 48
Crunelli (B17) 2005
Maksemous (B46) 2019; 2
Huang (B31) 2020; 295
Ng (B48) 2001; 11
Shihab (B60) 2013; 34
Bigal (B9) 2008; 48
Hiekkala (B29) 2018; 38
Sutherland (B62) 2019; 20
Delisle (B19) 2000; 78
Kumar (B38) 2019; 2019
Goadsby (B24) 2020; 40
Armstrong (B3) 1985; 227
Friedrich (B22) 2016; 7
Riant (B54) 2022; 98
Rogawski (B55) 2008; 65
Jones (B34) 2013; 288
Andrade (B2) 2016; 6
Hans (B27) 1999; 19
Benton (B8) 2019; 21
Lu (B44) 2012; 3
References_xml – volume: 3
  start-page: 18
  year: 2012
  ident: B44
  article-title: Support for calcium channel gene defects in autism spectrum disorders.
  publication-title: Mol. Autism
  doi: 10.1186/2040-2392-3-18
  contributor:
    fullname: Lu
– volume: 292
  start-page: 20010
  year: 2017
  ident: B12
  article-title: Calmodulin regulates Cav3 T-type channels at their gating brake.
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M117.807925
  contributor:
    fullname: Chemin
– volume: 93
  start-page: 961
  year: 2013
  ident: B13
  article-title: T-type Ca2+ channels in normal and abnormal brain functions.
  publication-title: Physiol. Rev.
  doi: 10.1152/physrev.00010.2012
  contributor:
    fullname: Cheong
– volume: 38
  start-page: 1849
  year: 2018
  ident: B29
  article-title: The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: a clinical and genetic study in Finnish migraine families.
  publication-title: Cephalalgia
  doi: 10.1177/0333102418761041
  contributor:
    fullname: Hiekkala
– volume: 219
  start-page: e202001064
  year: 2020
  ident: B42
  article-title: SuperPlots: communicating reproducibility and variability in cell biology.
  publication-title: J. Cell Biol.
  doi: 10.1083/jcb.202001064
  contributor:
    fullname: Lord
– volume: 6
  start-page: 34233
  year: 2016
  ident: B2
  article-title: A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity.
  publication-title: Sci. Rep.
  doi: 10.1038/srep34233
  contributor:
    fullname: Andrade
– volume: 48
  start-page: W140
  year: 2020
  ident: B68
  article-title: MusiteDeep: a deep-learning based webserver for protein post-translational modification site prediction and visualization.
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkaa275
  contributor:
    fullname: Wang
– start-page: 253
  year: 2000
  ident: B15
  article-title: Inhibition of the K+ channel kv1.4 by acidosis: protonation of an extracellular histidine slows the recovery from N-type inactivation.
  publication-title: J. Physiol.
  doi: 10.1111/j.1469-7793.2000.00253.x
  contributor:
    fullname: Claydon
– volume: 288
  start-page: 4782
  year: 2013
  ident: B34
  article-title: Proton sensors in the pore domain of the cardiac voltage-gated sodium channel.
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M112.434266
  contributor:
    fullname: Jones
– volume: 31
  start-page: 1274
  year: 2011
  ident: B28
  article-title: Trigger factors for familial hemiplegic migraine.
  publication-title: Cephalalgia
  doi: 10.1177/0333102411415878
  contributor:
    fullname: Hansen
– volume: 144
  start-page: 2092
  year: 2021
  ident: B20
  article-title: CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
  publication-title: Brain
  doi: 10.1093/brain/awab101
  contributor:
    fullname: El Ghaleb
– start-page: 121
  year: 2005
  ident: B17
  article-title: The ‘window’ T-type calcium current in brain dynamics of different behavioural states.
  publication-title: J. Physiol.
  doi: 10.1113/jphysiol.2004.076273
  contributor:
    fullname: Crunelli
– volume: 2019
  start-page: pdb.prot095430
  year: 2019
  ident: B38
  article-title: Calcium phosphate-mediated transfection of eukaryotic cells with plasmid DNAs.
  publication-title: Cold Spring Harb. Protoc.
  doi: 10.1101/pdb.prot095430
  contributor:
    fullname: Kumar
– volume: 28
  start-page: 351
  year: 2012
  ident: B41
  article-title: Emerging approaches to probing ion channel structure and function.
  publication-title: Neurosci. Bull.
  doi: 10.1007/s12264-012-1248-0
  contributor:
    fullname: Li
– volume: 99
  start-page: 13284
  year: 2002
  ident: B65
  article-title: Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.192242399
  contributor:
    fullname: Tottene
– volume: 97
  start-page: 161
  year: 2010
  ident: B69
  article-title: Triggers of migraine and tension-type headache.
  publication-title: Handb. Clin. Neurol.
  doi: 10.1016/S0072-9752(10)97012-7
  contributor:
    fullname: Wober
– volume: 9
  start-page: 676
  year: 2012
  ident: B57
  article-title: Fiji: an open-source platform for biological-image analysis.
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.2019
  contributor:
    fullname: Schindelin
– volume: 108
  start-page: 13823
  year: 2011
  ident: B4
  article-title: The Ca(V)3.3 calcium channel is the major sleep spindle pacemaker in thalamus.
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.1105115108
  contributor:
    fullname: Astori
– volume: 282
  start-page: 21043
  year: 2007
  ident: B30
  article-title: Selective inhibition of Cav3.3 T-type calcium channels by Galphaq/11-coupled muscarinic acetylcholine receptors.
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M611809200
  contributor:
    fullname: Hildebrand
– volume: 11
  start-page: 4171
  year: 1999
  ident: B36
  article-title: Comparison of the Ca2 + currents induced by expression of three cloned alpha1 subunits, alpha1G, alpha1H and alpha1I, of low-voltage-activated T-type Ca2 + channels.
  publication-title: Eur. J. Neurosci.
  doi: 10.1046/j.1460-9568.1999.00849.x
  contributor:
    fullname: Klockner
– volume: 83
  start-page: 117
  year: 2003
  ident: B53
  article-title: Molecular physiology of low-voltage-activated t-type calcium channels.
  publication-title: Physiol. Rev.
  doi: 10.1152/physrev.00018.2002
  contributor:
    fullname: Perez-Reyes
– volume: 295
  start-page: 6177
  year: 2020
  ident: B31
  article-title: Delineating an extracellular redox-sensitive module in T-type Ca(2+) channels.
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.RA120.012668
  contributor:
    fullname: Huang
– volume: 39
  start-page: 1710
  year: 2019
  ident: B47
  article-title: Hypothalamic regulation of headache and migraine.
  publication-title: Cephalalgia
  doi: 10.1177/0333102419867280
  contributor:
    fullname: May
– volume: 145
  start-page: 1839
  year: 2021
  ident: B5
  article-title: Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
  publication-title: Brain
  doi: 10.1093/brain/awab443
  contributor:
    fullname: Baez-Nieto
– volume: 39
  start-page: 1675
  year: 2019
  ident: B70
  article-title: Current understanding of thalamic structure and function in migraine.
  publication-title: Cephalalgia
  doi: 10.1177/0333102418791595
  contributor:
    fullname: Younis
– volume: 19
  start-page: 1553
  year: 2009
  ident: B14
  article-title: Identification of deleterious mutations within three human genomes.
  publication-title: Genome Res.
  doi: 10.1101/gr.092619.109
  contributor:
    fullname: Chun
– volume: 128
  start-page: 133
  year: 2006
  ident: B21
  article-title: Molecular and functional differences between heart mKv1.7 channel isoforms.
  publication-title: J. Gen. Physiol.
  doi: 10.1085/jgp.200609498
  contributor:
    fullname: Finol-Urdaneta
– volume: 98
  start-page: e51
  year: 2022
  ident: B54
  article-title: Hemiplegic migraine associated with PRRT2 variations: a clinical and genetic study.
  publication-title: Neurology
  doi: 10.1212/WNL.0000000000012947
  contributor:
    fullname: Riant
– volume: 17
  start-page: e1008997
  year: 2021
  ident: B33
  article-title: Robust switches in thalamic network activity require a timescale separation between sodium and T-type calcium channel activations.
  publication-title: PLoS Comput. Biol.
  doi: 10.1371/journal.pcbi.1008997
  contributor:
    fullname: Jacquerie
– volume: 19
  start-page: 1610
  year: 1999
  ident: B27
  article-title: Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.19-05-01610.1999
  contributor:
    fullname: Hans
– volume: 24
  start-page: 1016
  year: 2004
  ident: B64
  article-title: Sporadic hemiplegic migraine.
  publication-title: Cephalalgia
  doi: 10.1111/j.1468-2982.2004.00788.x
  contributor:
    fullname: Thomsen
– volume: 22
  start-page: 361
  year: 2002
  ident: B45
  article-title: An epidemiological survey of hemiplegic migraine.
  publication-title: Cephalalgia
  doi: 10.1046/j.1468-2982.2002.00371.x
  contributor:
    fullname: Lykke Thomsen
– volume: 10
  start-page: 457
  year: 2011
  ident: B56
  article-title: Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management.
  publication-title: Lancet Neurol.
  doi: 10.1016/S1474-4422(11)70048-5
  contributor:
    fullname: Russell
– volume: 78
  start-page: 1895
  year: 2000
  ident: B19
  article-title: PH modification of human T-type calcium channel gating.
  publication-title: Biophys. J.
  doi: 10.1016/S0006-3495(00)76738-5
  contributor:
    fullname: Delisle
– volume: 15
  start-page: 3110
  year: 1995
  ident: B66
  article-title: Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy.
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.15-04-03110.1995
  contributor:
    fullname: Tsakiridou
– volume: 60
  start-page: 2103
  year: 2020
  ident: B6
  article-title: Migraine as a cortical brain disorder.
  publication-title: Headache
  doi: 10.1111/head.13935
  contributor:
    fullname: Barbanti
– volume: 53
  start-page: 563
  year: 2007
  ident: B67
  article-title: The coupling between synaptic vesicles and Ca2+ channels determines fast neurotransmitter release.
  publication-title: Neuron
  doi: 10.1016/j.neuron.2007.01.021
  contributor:
    fullname: Wadel
– volume: 7
  start-page: 575
  year: 2010
  ident: B58
  article-title: MutationTaster evaluates disease-causing potential of sequence alterations.
  publication-title: Nat. Methods
  doi: 10.1038/nmeth0810-575
  contributor:
    fullname: Schwarz
– volume: 348
  start-page: 673
  year: 2006
  ident: B71
  article-title: Biophysical characterisation of electrofused giant HEK293-cells as a novel electrophysiological expression system.
  publication-title: Biochem. Biophys. Res. Commun.
  doi: 10.1016/j.bbrc.2006.07.112
  contributor:
    fullname: Zimmermann
– volume: 472
  start-page: 831
  year: 2020
  ident: B43
  article-title: Neuronal Cav3 channelopathies: recent progress and perspectives.
  publication-title: Pflugers Arch.
  doi: 10.1007/s00424-020-02429-7
  contributor:
    fullname: Lory
– volume: 46
  start-page: 310
  year: 2014
  ident: B35
  article-title: A general framework for estimating the relative pathogenicity of human genetic variants.
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2892
  contributor:
    fullname: Kircher
– volume: 360
  start-page: eaap8757
  year: 2018
  ident: B10
  article-title: Analysis of shared heritability in common disorders of the brain.
  publication-title: Science
  doi: 10.1126/science.aap8757
  contributor:
    fullname: Brainstorm
– volume: 90
  start-page: e575
  year: 2018
  ident: B52
  article-title: Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.
  publication-title: Neurology
  doi: 10.1212/WNL.0000000000004966
  contributor:
    fullname: Pelzer
– volume: 31
  start-page: 14204
  year: 2011
  ident: B49
  article-title: Cortical projections of functionally identified thalamic trigeminovascular neurons: implications for migraine headache and its associated symptoms.
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.3285-11.2011
  contributor:
    fullname: Noseda
– volume: 86
  start-page: 1
  year: 1985
  ident: B7
  article-title: Two kinds of calcium channels in canine atrial cells. Differences in kinetics, selectivity, and pharmacology.
  publication-title: J. Gen. Physiol.
  doi: 10.1085/jgp.86.1.1
  contributor:
    fullname: Bean
– volume: 11
  start-page: 4149
  year: 1999
  ident: B37
  article-title: Distinct kinetics of cloned T-type Ca2 + channels lead to differential Ca2 + entry and frequency-dependence during mock action potentials.
  publication-title: Eur. J. Neurosci.
  doi: 10.1046/j.1460-9568.1999.00841.x
  contributor:
    fullname: Kozlov
– volume: 11
  start-page: 863
  year: 2001
  ident: B48
  article-title: Predicting deleterious amino acid substitutions.
  publication-title: Genome Res.
  doi: 10.1101/gr.176601
  contributor:
    fullname: Ng
– volume: 7
  start-page: 239
  year: 2016
  ident: B22
  article-title: ATP1A2 mutations in migraine: seeing through the facets of an ion pump onto the neurobiology of disease.
  publication-title: Front. Physiol.
  doi: 10.3389/fphys.2016.00239
  contributor:
    fullname: Friedrich
– volume: 141
  start-page: 1998
  year: 2018
  ident: B11
  article-title: De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
  publication-title: Brain
  doi: 10.1093/brain/awy145
  contributor:
    fullname: Chemin
– volume: 10
  start-page: 29
  year: 2020
  ident: B23
  article-title: Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits.
  publication-title: Transl. Psychiatry
  doi: 10.1038/s41398-020-0685-1
  contributor:
    fullname: Ghoshal
– volume: 12
  year: 2020
  ident: B72
  article-title: Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
  publication-title: Sci. Transl. Med.
  doi: 10.1126/scitranslmed.aay6848
  contributor:
    fullname: Heyne
– volume: 227
  start-page: 65
  year: 1985
  ident: B3
  article-title: Two distinct populations of calcium channels in a clonal line of pituitary cells.
  publication-title: Science
  doi: 10.1126/science.2578071
  contributor:
    fullname: Armstrong
– volume: 4
  start-page: 126
  year: 2011
  ident: B32
  article-title: Neuronal T-type calcium channels: what’s new? Iftinca: T-type channel regulation.
  publication-title: J. Med. Life
  contributor:
    fullname: Iftinca
– volume: 2
  start-page: 1
  year: 2019
  ident: B46
  article-title: Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine.
  publication-title: Cephalalgia Rep.
  contributor:
    fullname: Maksemous
– volume: 7
  start-page: 248
  year: 2010
  ident: B1
  article-title: A method and server for predicting damaging missense mutations.
  publication-title: Nat. Methods
  doi: 10.1038/nmeth0410-248
  contributor:
    fullname: Adzhubei
– volume: 98
  start-page: 743.e4
  year: 2018
  ident: B26
  article-title: Common variant burden contributes to the familial aggregation of migraine in 1,589 families.
  publication-title: Neuron
  doi: 10.1016/j.neuron.2018.04.014
  contributor:
    fullname: Gormley
– volume: 111
  start-page: 11828
  year: 2014
  ident: B39
  article-title: Rebound burst firing in the reticular thalamus is not essential for pharmacological absence seizures in mice.
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.1408609111
  contributor:
    fullname: Lee
– volume: 126
  start-page: 115
  year: 2009
  ident: B18
  article-title: Molecular genetics of migraine.
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-009-0684-z
  contributor:
    fullname: de Vries
– volume: 82
  start-page: 24
  year: 2014
  ident: B61
  article-title: Neuronal voltage-gated calcium channels: structure, function, and dysfunction.
  publication-title: Neuron
  doi: 10.1016/j.neuron.2014.03.016
  contributor:
    fullname: Simms
– volume: 48
  start-page: 7
  year: 2008
  ident: B9
  article-title: Concepts and mechanisms of migraine chronification.
  publication-title: Headache
  doi: 10.1111/j.1526-4610.2007.00969.x
  contributor:
    fullname: Bigal
– volume: 21
  start-page: 951
  year: 2019
  ident: B8
  article-title: Variant call format-diagnostic annotation and reporting tool: a customizable analysis pipeline for identification of clinically relevant genetic variants in next-generation sequencing data.
  publication-title: J. Mol. Diagn.
  doi: 10.1016/j.jmoldx.2019.07.001
  contributor:
    fullname: Benton
– volume: 11
  start-page: 197
  year: 2010
  ident: B50
  article-title: Associations between sleep disturbance and primary headaches: the third nord-trondelag health study.
  publication-title: J. Headache Pain
  doi: 10.1007/s10194-010-0201-8
  contributor:
    fullname: Odegard
– volume: 34
  start-page: 57
  year: 2013
  ident: B60
  article-title: Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22225
  contributor:
    fullname: Shihab
– volume: 85
  start-page: 1051
  year: 2001
  ident: B59
  article-title: Modulation by extracellular pH of low- and high-voltage-activated calcium currents of rat thalamic relay neurons.
  publication-title: J. Neurophysiol.
  doi: 10.1152/jn.2001.85.3.1051
  contributor:
    fullname: Shah
– volume: 65
  start-page: 709
  year: 2008
  ident: B55
  article-title: Common pathophysiologic mechanisms in migraine and epilepsy.
  publication-title: Arch. Neurol.
  doi: 10.1001/archneur.65.6.709
  contributor:
    fullname: Rogawski
– volume: 536
  start-page: 285
  year: 2016
  ident: B40
  article-title: Analysis of protein-coding genetic variation in 60,706 humans.
  publication-title: Nature
  doi: 10.1038/nature19057
  contributor:
    fullname: Lek
– volume: 9
  start-page: 2368
  year: 2020
  ident: B63
  article-title: Comprehensive exonic sequencing of hemiplegic migraine-related genes in a cohort of suspected probands identifies known and potential pathogenic variants.
  publication-title: Cells
  doi: 10.3390/cells9112368
  contributor:
    fullname: Sutherland
– volume: 40
  start-page: 887
  year: 2020
  ident: B24
  article-title: International classification of headache disorders-ICHD-4 alpha.
  publication-title: Cephalalgia
  doi: 10.1177/0333102420919098
  contributor:
    fullname: Goadsby
– volume: 38
  start-page: 9186
  year: 2018
  ident: B16
  article-title: CACHD1 is an alpha2delta-like protein that modulates CaV3 voltage-gated calcium channel activity.
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.3572-15.2018
  contributor:
    fullname: Cottrell
– start-page: 31
  year: 1997
  ident: B51
  article-title: Familial hemiplegic migraine: involvement of a calcium neuronal channel.
  publication-title: Neurologia
  contributor:
    fullname: Ophoff
– volume: 20
  start-page: 72
  year: 2019
  ident: B62
  article-title: Advances in genetics of migraine.
  publication-title: J. Headache Pain
  doi: 10.1186/s10194-019-1017-9
  contributor:
    fullname: Sutherland
– volume: 12
  start-page: 661408
  year: 2021
  ident: B25
  article-title: From physiology to pathology of cortico-thalamo-cortical oscillations: astroglia as a target for further research.
  publication-title: Front. Neurol.
  doi: 10.3389/fneur.2021.661408
  contributor:
    fullname: Gobbo
SSID ssj0062653
Score 2.3750865
Snippet Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, , , and , have been implicated. However, more than 80% of...
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A , SCN1A , and ATP1A2 , have been implicated....
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A, SCN1A, and ATP1A2, have been implicated. However,...
SourceID doaj
pubmedcentral
proquest
crossref
pubmed
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
StartPage 892820
SubjectTerms Acidosis
Alkalosis
Ataxia
CACNA1I
Calcium channels
Calcium channels (T-type)
Calcium channels (voltage-gated)
Cav3.3
Electrophysiology
familial hemiplegic migraine
Gene expression
Genomics
Headache
hemiplegic migraine
ion channel
Kinetics
Migraine
migraine genetics
Molecular Neuroscience
Mutation
Proteins
Sodium channels (voltage-gated)
Statistical analysis
SummonAdditionalLinks – databaseName: Open Access: DOAJ - Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LT9wwEB4hDogLKpS24VGlEiekwMaO4_i4u-1qW2k5gcTNipMx3QMJggWJf8-Mk13tIqReeotiK3G-sefhcb4BOEOtc6Y1S7i6VUIWr0ic0khXWUUSJ4sRfhebXeXTm-zPrbpdK_XFZ8I6euAOuMuskFgJLUqabZkRRcGM4qhKYWgtO-2D9h2YZTDV6WDy0pXscpgUgplL39y3nGcQ4qKgZ3Bx7zUrFMj6P_Iw3x-UXLM8k0-w17uM8bAb6j5sYXMAO7M-Kf4ZRmtcGW0Ttz4eD8dXw_R3PC5f5IWMf74-sfkKrfMmnuI9766Tyotn8zsuEYGHcDP5dT2eJn1phKTKjFwkimtGYzlwlTfK1WSHfa6qyjnMhamFTiula-2NKWvv0dWVx8JlyvvS5KaohfwC203b4DeItcMajaL-taNn5m7gSQdIlBJTlyJGcL6Eyj50DBiWIgfG1QZcLeNqO1wjGDGYq45MXh1ukEhtL1L7L5FGcLIUhe1X1JMVOU0cis2KNIIfq2ZaC5zgKBtsn0Mfo8mjy3UEXzvJrUYiFb1JGxGB3pDpxlA3W5r538C3bWRGeKdH_-PbjmGX4eLd4dScwPbi8RlPya1ZuO9hBr8BVkjy2w
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: AUTh Library subscriptions: ProQuest Central
  dbid: BENPR
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3db9MwED9BJyFeEN8EBgoST0jZGjuO4yfUlk0FqRVCTNpbFNvn0YclY-2Q-O-5S9yyIsRbFNuJ9Tv7Pu07gHeodclpzTKubpWRxKsyqzTSU-GI4iQx-utii2U5Pys-n6vz6HBbx2OVW57YM2rfOfaRH4uSBpJuXuUfrn5kXDWKo6uxhMZdOBBkKYxHcDA9WX75uuXFpK0rOcQyyRQzx6G97DjeIMRRZcjYGO9Joz5p_780zb8PTN6SQKcP4UFUHdPJQOtHcAfbx3BvEYPjT2B6K2dG16ZdSGeT2XKSf0pnzU95JNOPv9YsxvrWVZvO8ZK97MT60sXqgktF4FM4Oz35NptnsURC5gojN5ni2tHYjK0LRllP8jiUyjlrsRTGC507pb0OxjQ-BLTeBaxsoUJoTGkqL-QzGLVdiy8g1RY9GkX9vaVvlnYciBdIlBJzmyMm8H4LVX01ZMKoyYJgXOse15pxrQdcE5gymLuOnMS6f9FdX9RxT9RFJdEJLRpiJAUNqzhZPKpGGGLTVocEDrekqOPOWtd_1kECb3fNtCc40NG02N30fYwmza7UCTwfKLebiVT0J21EAnqPpntT3W9pV9_7vNtGFoR3_vL_03oF9xkI9v_m5hBGm-sbfE2Ky8a-iavzN7-h7YU
  priority: 102
  providerName: ProQuest
– databaseName: Scholars Portal Journals: Open Access
  dbid: M48
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3dT9swED8hJiFepg3GFsZQJu1pUjrijzh-QFPphgpSeVol3qw4ObNKIxmlTOO_5y5JKzr1cW9RfE6c39n34XPuAD6hMRmnNUu4ulVCGi9PvDZIV6okjpPGaH8Xm1xl46m6vNbXW7Asb9UDeL_RteN6UtP5r8Hfu8evtOBP2eMkffsl1LcNRxGEGOSWXAjy4F8IRY46n-RTq6ACme5adoHNzd3WVFObwX-T2fnv6cln6uj8Fbzs7ch42DH-NWxhvQc7kz5Svg9nzxJoNHXchHg0HF0N04t4VPyRAxl_e7xnnda2zup4jLe85U5yMJ7MbrhuBL6B6fn3H6Nx0tdLSEpl5SLRXEgaixNfBqt9Rco5ZLosvcdM2EqYtNSmMsHaogoBfVUGzL3SIRQ2s3kl5AFs102N7yA2Hiu0mugrT8_M_EkgwSBRSkx9ihjB5yVU7neXFsORO8G4uhZXx7i6DtcIzhjMFSFntG5vNPMb1y8Qp3KJpTCiIKmiqFvOmeNRF8KSzPYmRHC0ZIVbzhInMppN5LDlaQQfV820QDjqUdTYPLQ01pCZl5kI3nacW41EanqTsSICs8bTtaGut9Szn20SbisV4Z0e_o9vew-7DBdvGaf2CLYX8wf8QLbOwh-3M_gJ8lP8HA
  priority: 102
  providerName: Scholars Portal
Title Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
URI https://www.ncbi.nlm.nih.gov/pubmed/35928792
https://www.proquest.com/docview/2691596681
https://search.proquest.com/docview/2699705667
https://pubmed.ncbi.nlm.nih.gov/PMC9345121
https://doaj.org/article/483ec272a040492885598e5a29002b7f
Volume 15
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnR1da9sw8Gg7GHsZ-567Nniwp4GTWrIs6zFxP7KBQxkr5M1Y8qkLLHZp08L-_U6yHZqxp74IYUlG3J3uQ3e6A_iCUqYurVnkqltFJPGySAuJ1EsMYZwkhn8uVizS-VXyfSmWeyCGtzA-aN_o1bj5vR43q18-tvJmbSZDnNjkssgVT0hOxZN92CcCHUz0jv2Sgi54574k60tNbLNunYuBsXGmyL5wpd-4oJ5UbEcW-ZT9_9Mz_w2XfCR_zl_By15xDKfdBl_DHjZv4HnRu8bfwuxRxoy2CVsb5tN8MY2_hXn1wMc8PP1z54SYH1014RzX7o6dGF9YrK5doQh8B1fnZz_zedQXSIhMovgmEq5yNFYn2lgldE3S2KbCGK0xZapmMjZC1tIqVdXWoq6NxUwnwtpKpSqrGX8PB03b4EcIpcYalaD5taZ_pvrEEifgyDnGOkYM4OsAqvKmy4NRkv3gQFx6EJcOxGUH4gBmDpjbiS6Ftf_Q3l6XPSLLJONomGQVsZGElmUuVTyKiili0lraAI4GVJT9uborWUrkQxZaFgfweTtMJ8K5OaoG23s_R0nS61IZwIcOc9udDJgPQO7gdGeruyNEhD7rdk90h09e-QleOBi5i-FYHcHB5vYej0mj2egRPJudLS5_jPyNALUXy5jaIslGnrb_AqSM-WE
link.rule.ids 230,315,730,783,787,867,888,2109,21400,24330,27936,27937,33756,33757,43817,53804,53806,74630
linkProvider National Library of Medicine
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3fb9MwED7BJsFeED9HYECQeELK1thxHD-htmzqYK0Q2qS9WXF8Hn1Ysq0dEv89d0laVoR4i2I7sb6L7853zncAH1DrnGnNEq5ulZDFKxKnNNJVVpHEyWK0v4tNZ_nkLPtyrs77gNuiP1a50omtovZNxTHyA5HTQPLNi_TT1XXCVaM4u9qX0LgP20xVRZuv7dHh7Nv3lS4mb13JLpdJWzFzEOrLhvMNQuwXhjYbgw1r1JL2_8vT_PvA5B0LdPQYHvWuYzzsZP0E7mH9FB5M--T4Mxjd4cxo6rgJ8Xg4ng3T43hc_pT7Mv78a8FmrG2d1_EELznKTqovns4vuFQEPoezo8PT8STpSyQkVWbkMlFcOxrLgauCUc6TPQ65qirnMBfGC51WSnsdjCl9COh8FbBwmQqhNLkpvJAvYKtuanwJsXbo0Sjq7x09M3eDQLpAopSYuhQxgo8rqOxVx4RhaQfBuNoWV8u42g7XCEYM5rojk1i3N5qbC9uvCZsVEiuhRUmKJKNhBZPFoyqFITXtdIhgbyUK26-shf3zHUTwft1Ma4ITHWWNzW3bx2jy7HIdwW4nufVMpKI3aSMi0Bsy3ZjqZks9_9HybhuZEd7pq_9P6x08nJxOT-zJ8ezra9hhUDgWnJo92Fre3OIbcmKW7m3_pf4GLM7wfw
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3fb9MwED5BJ028IMavBbYRJJ6QsjZ2HMdPqO1WdUCrCTFpb1bsnEcfloy1Q-K_55y43YoQb1HsJNZ39t3Zd_kO4ANKmXtas8RXt0rI4hWJERLpKrMkcbIY7e9is3k-vcg-X4rLkP-0DGmVa53YKuqqsf6MvM9yepB88yLtu5AWcX4y-XTzM_EVpHykNZTTeAw7Msv5oAc7o9P5-be1XibPXfAurknbMtV39XXjYw-MHReKNh6DLcvUEvj_y-v8O3nygTWaPIOnwY2Mh53c9-AR1s9hdxYC5S9g9IA_o6njxsXj4Xg-TM_icfmLH_P45PfSm7S2dVHHU7z2J-6kBuPZ4sqXjcCXcDE5_T6eJqFcQmIzxVeJ8HWksRwY65QwFdlmlwtrjcGcqYrJ1ApZSadUWTmHprIOC5MJ50qVq6Ji_BX06qbGfYilwQqVoP6VoXfmZuBIL3DkHFOTIkbwcQ2VvulYMTTtJjyuusVVe1x1h2sEIw_mpqMntG5vNLdXOqwPnRUcLZOsJKWS0WOFJ45HUTJFKttIF8HBWhQ6rLKlvp8TEbzfNNP68EGPssbmru2jJHl5uYzgdSe5zUi4oC9JxSKQWzLdGup2S7340XJwK54R3umb_w_rHezSJNVfz-Zf3sITj4k_Fk7VAfRWt3d4SP7MyhyFifoHQoL0rQ
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=Investigation+of+CACNA1I+Cav3.3+Dysfunction+in+Hemiplegic+Migraine&rft.jtitle=Frontiers+in+molecular+neuroscience&rft.au=Neven+Maksemous&rft.au=Claire+D.+Blayney&rft.au=Heidi+G.+Sutherland&rft.au=Robert+A.+Smith&rft.date=2022-07-19&rft.pub=Frontiers+Media+S.A&rft.eissn=1662-5099&rft.volume=15&rft_id=info:doi/10.3389%2Ffnmol.2022.892820&rft.externalDBID=DOA&rft.externalDocID=oai_doaj_org_article_483ec272a040492885598e5a29002b7f
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1662-5099&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1662-5099&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1662-5099&client=summon