Variant: rs121917911 

    present in Gene: SCN1A;LOC102724058;SCN1A-AS1
    present in Chromosome: 2
    Position on Chromosome: 166013752
    Alleles of this Variant: C/G

rs121917911 in SCN1A;LOC102724058;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.