Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625

2017
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
G 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154

2012
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT 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). 20729507

2010
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458

2010
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430

2010
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604

2010
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081

2009
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202

2007
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 16210358

2005
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 16122630

2005
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT 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). 14738421

2004
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100

2004
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740

2003
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708

2003
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275

2003
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 14672992

2003