×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
30415926
2019
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
Biomarker
disease
GENOMICS_ENGLAND
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
24579881
2014
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
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:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
CLINVAR
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
27781031
2016
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
29844171
2018
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23935176
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
A case of recurrent encephalopathy with SCN2A missense mutation.
25457084
2015
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Confirming an expanded spectrum of SCN2A mutations: a case series.
24659627
2014
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
19786696
2009
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
CausalMutation
disease
CLINVAR
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
15048894
2004
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
CausalMutation
disease
CLINVAR
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
19786696
2009
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
CLINVAR
Genomic diagnosis for children with intellectual disability and/or developmental delay.
28554332
2017
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
Biomarker
disease
GENOMICS_ENGLAND
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
15028761
2004
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
CLINVAR
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23935176
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
30144217
2018
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
CLINVAR
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
28379373
2017
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
26291284
2015
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
19783390
2009
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
23662938
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
CausalMutation
disease
CLINVAR
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
26648591
2016
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
GeneticVariation
disease
UNIPROT
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
24710820
2014
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.700
CausalMutation
disease
CLINVAR
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23935176
2013