Variant: rs121918793 

    present in Gene: SCN1A;SCN1A-AS1;LOC102724058
    present in Chromosome: 2
    Position on Chromosome: 165991549
    Alleles of this Variant: G/A

rs121918793 in SCN1A;SCN1A-AS1;LOC102724058 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 28708303 2018 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PMID 18076640 2008 A screening test for the prediction of Dravet syndrome before one year of age.

PMID 18804930 2009 A catalog of SCN1A variants.

rs121918793 in SCN1A;SCN1A-AS1;LOC102724058 gene and Early Infantile Epileptic Encephalopathy 6 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 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

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

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

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

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

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

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

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

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

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

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients 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 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

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

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