×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
GeneticVariation
group
BEFREE
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay.
29432985
2018
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
Biomarker
group
BEFREE
SCN8A can be considered as a candidate gene for isolated movement disorders without seizures.
29726066
2018
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Loss-of-function variants of SCN8A in intellectual disability without seizures.
28702509
2017
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
26677014
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
SCN8A encephalopathy: Research progress and prospects.
27270488
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
26252990
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26900580
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
26220391
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
26029160
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
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
0.150
CausalMutation
group
CLINVAR
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
25914188
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
25799905
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
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
0.150
CausalMutation
group
CLINVAR
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
25239001
2014
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
24888894
2014
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
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
0.150
CausalMutation
group
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
CausalMutation
group
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
0.150
CausalMutation
group
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
0.150
CausalMutation
group
CLINVAR
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
20196795
2010
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
Biomarker
group
BEFREE
Mutations in SCN8A are associated with cognitive deficits and neuropsychiatric illness in humans and movement disorders in mice; however, a role for SCN8A (Na(v )1.6) in epilepsy has not been investigated.
17881658
2007
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.150
Biomarker
group
BEFREE
Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders .
16236810
2006