Case studies in neuroscience: a novel amino acid duplication in the NH
Dravet syndrome
NaV1.1
SCN1A
loss of function
Journal
Journal of neurophysiology
ISSN: 1522-1598
Titre abrégé: J Neurophysiol
Pays: United States
ID NLM: 0375404
Informations de publication
Date de publication:
01 11 2019
01 11 2019
Historique:
pubmed:
19
9
2019
medline:
4
8
2020
entrez:
19
9
2019
Statut:
ppublish
Résumé
Dravet syndrome is a severe form of childhood epilepsy characterized by frequent temperature-sensitive seizures and delays in cognitive development. In the majority (80%) of cases, Dravet syndrome is caused by mutations in the SCN1A gene, encoding the voltage-gated sodium channel Na
Identifiants
pubmed: 31533007
doi: 10.1152/jn.00491.2019
pmc: PMC6879963
doi:
Substances chimiques
NAV1.1 Voltage-Gated Sodium Channel
0
SCN1A protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1975-1980Références
J Neurosci. 2019 May 29;39(22):4238-4251
pubmed: 30914445
Hum Mutat. 2015 Jun;36(6):573-80
pubmed: 25754450
J Neurosci. 2009 Mar 4;29(9):2733-41
pubmed: 19261867
Channels (Austin). 2009 May-Jun;3(3):171-80
pubmed: 19535906
Neuron. 2000 Apr;26(1):13-25
pubmed: 10798388
Proc Natl Acad Sci U S A. 2014 Jul 29;111(30):E3139-48
pubmed: 25024183
Epilepsia. 2006;47 Suppl 2:45-8
pubmed: 17105460
Can J Neurol Sci. 2016 Jun;43 Suppl 3:S13-8
pubmed: 27264138
Epilepsy Behav. 2012 Mar;23(3):177-86
pubmed: 22341965
Am J Hum Genet. 2001 Jun;68(6):1327-32
pubmed: 11359211
Neurobiol Dis. 2015 May;77:141-54
pubmed: 25766678
Nat Methods. 2012 Jun 28;9(7):676-82
pubmed: 22743772
Sci Rep. 2016 Sep 01;6:31879
pubmed: 27582020
Epilepsy Res. 2011 Jun;95(1-2):86-93
pubmed: 21474289
Proc Natl Acad Sci U S A. 2004 Jul 27;101(30):11147-52
pubmed: 15263074
Epilepsia. 2011 Apr;52 Suppl 2:39-43
pubmed: 21463278
Epilepsia. 2011 Jun;52(6):1144-9
pubmed: 21480880
Neurology. 2011 Feb 15;76(7):594-600
pubmed: 21248271
Epilepsia. 2011 Apr;52 Suppl 2:59-61
pubmed: 21463282
Ann Neurol. 2019 Apr;85(4):514-525
pubmed: 30779207
Epilepsy Behav. 2011 Jul;21(3):291-5
pubmed: 21620773
J Biol Chem. 2012 May 25;287(22):18459-66
pubmed: 22474336
Neuroscientist. 2001 Feb;7(1):42-54
pubmed: 11486343