×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
28379373
2017
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Opposing Effects on NaV 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
28256214
2017
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
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
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
26645390
2016
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
26291284
2015
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
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
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genotype phenotype associations across the voltage-gated sodium channel family.
25163687
2014
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
23827426
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23935176
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
23849776
2013
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical application of exome sequencing in undiagnosed genetic conditions.
22581936
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical spectrum of SCN2A mutations.
22029951
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
22495306
2012
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
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
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
20351042
2010
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
20346423
2010
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
20006674
2010
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
19786696
2009
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.
18809926
2008
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
18479388
2008
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
17467289
2007