PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 26645390 2016 Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 23827426 2013 SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
PMID 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
PMID 20346423 2010 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.
PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 15249644 2004 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.
PMID 28256214 2017 Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
PMID 1658783 1991 Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex.
PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
PMID 18809926 2008 Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.
PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
PMID 22029951 2012 Clinical spectrum of SCN2A mutations.
PMID 20006674 2010 Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
PMID 28379373 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
PMID 17467289 2007 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
PMID 1325650 1992 Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
PMID 15101391 2004 Evolutionary convergence of alternative splicing in ion channels.
PMID 11245985 2001 Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
PMID 25163687 2014 Genotype phenotype associations across the voltage-gated sodium channel family.
PMID 24579881 2014 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
PMID 1658739 1991 Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs.
PMID 10198179 1999 Evolution and diversity of mammalian sodium channel genes.
rs1553583712 in
SCN2A gene and
Muscle hypotonia
PMID 1325650 1992 Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 1658783 1991 Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex.
PMID 18809926 2008 Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.
PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
PMID 26645390 2016 Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 28379373 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
PMID 28256214 2017 Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
PMID 20346423 2010 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.
PMID 23827426 2013 SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
PMID 15249644 2004 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.
PMID 20006674 2010 Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 22029951 2012 Clinical spectrum of SCN2A mutations.
PMID 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
PMID 25163687 2014 Genotype phenotype associations across the voltage-gated sodium channel family.
PMID 24579881 2014 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 15101391 2004 Evolutionary convergence of alternative splicing in ion channels.
PMID 17467289 2007 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
PMID 19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 11245985 2001 Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
PMID 1658739 1991 Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs.
PMID 10198179 1999 Evolution and diversity of mammalian sodium channel genes.