×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847
2017
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
28923014
2017
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
Biomarker
disease
GENOMICS_ENGLAND
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
26677014
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
BEFREE
Topics discussed at this meeting included (1) comparison between mutations of SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Nav 1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy , (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A encephalopathy , and (7) efforts to develop a bioregistry.
27270488
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26900580
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
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
0.720
CausalMutation
disease
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
0.720
GeneticVariation
disease
UNIPROT
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
27210545
2016
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
25046240
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
26235739
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
25951352
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
The phenotypic spectrum of SCN8A encephalopathy.
25568300
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
The phenotypic spectrum of SCN8A encephalopathy.
25568300
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25785782
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
25914188
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
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
0.720
CausalMutation
disease
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
0.720
CausalMutation
disease
CLINVAR
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
26235738
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
GeneticVariation
disease
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
25799905
2015
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
CLINVAR
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
24888894
2014
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.720
CausalMutation
disease
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