|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
|
28256214 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
|
26645390 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
|
26291284 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
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 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genotype phenotype associations across the voltage-gated sodium channel family.
|
25163687 |
2014 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
|
23935176 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
|
23827426 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of SCN2A mutations.
|
22029951 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
|
20351042 |
2010 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
|
20006674 |
2010 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
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 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
|
19786696 |
2009 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
|
18479388 |
2008 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.
|
18809926 |
2008 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
|
17386050 |
2007 |