Gene: SCN1A ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517958
rs1057517958
SCN1A ; SCN1A-AS1 ; LOC102724058
0.700 GeneticVariation UNIPROT

dbSNP: rs1057519530
rs1057519530
SCN1A ; SCN1A-AS1
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs1057519533
rs1057519533
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs1057521079
rs1057521079
SCN1A ; SCN1A-AS1 ; LOC102724058
0.700 GeneticVariation UNIPROT

dbSNP: rs1057521080
rs1057521080
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT

dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 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: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625

2017
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740

2003
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081

2009
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 14672992

2003
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458

2010
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275

2003
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 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: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 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: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154

2012
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708

2003
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430

2010
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100

2004
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
0.700 GeneticVariation UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604

2010