rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
24874546
2014
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
A novel, abundant sodium channel expressed in neurons and glia.
7751906
1995
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.
9295353
1997
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
26677014
2016
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
25239001
2014
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
26220391
2015
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
25725044
2015
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
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
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
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
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.
10745221
2000
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
24888894
2014
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
25799905
2015
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.
9828131
1998
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
16236810
2006
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Loss-of-function variants of SCN8A in intellectual disability without seizures.
28702509
2017
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
25914188
2015
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26900580
2016
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
26029160
2015
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
26252990
2016
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
20196795
2010
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
SCN8A encephalopathy: Research progress and prospects.
27270488
2016
rs1555230924
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782
2015