×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
26297079 2016
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
25046240 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
26235739 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
25951352 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
The phenotypic spectrum of SCN8A encephalopathy.
25568300 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
25914188 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
25725044 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
26235738 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
25799905 2015
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
24888894 2014
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
24352161 2014
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13 ).
25239001 2014
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
GeneticVariation
CLINVAR
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
24874546 2014
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
24874546 2014
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111 2013
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187 2013
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
24194747 2013
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
GeneticVariation
CLINVAR
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
22365152 2012
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937 2012
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
CausalMutation
CLINVAR
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
22365152 2012
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
GeneticVariation
CLINVAR
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
17881658 2007
×
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.720
GeneticVariation
CLINVAR
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
12374766 2002