KEGG   VARIANT: 6334v2
Entry
6334v2                      Variant                                
Name
SCN8A gain-of-function mutation
Type
Gain of function
Gene
SCN8A  sodium voltage-gated channel alpha subunit 8 [KO:K04840]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600702
Network
nt06546  IgSF CAM signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:22365152
  Authors
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF
  Title
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
  Journal
Am J Hum Genet 90:502-10 (2012)
DOI:10.1016/j.ajhg.2012.01.006
Reference
PMID:31715021
  Authors
Pan Y, Cummins TR
  Title
Distinct functional alterations in SCN8A epilepsy mutant channels.
  Journal
J Physiol 598:381-401 (2020)
DOI:10.1113/JP278952
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