rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847
2017
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
28923014
2017
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26900580
2016
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
27210545
2016
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
The phenotypic spectrum of SCN8A encephalopathy.
25568300
2015
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782
2015
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
25725044
2015
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
C
0.800
CausalMutation
CLINVAR
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
26235739
2015
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
24874546
2014
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
24352161
2014
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
25239001
2014
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
24888894
2014
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
rs879255698
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
SCN8A-related epilepsy with encephalopathy
0.800
GeneticVariation
UNIPROT
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
22365152
2012