Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 15944908 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease 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
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 14672992 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 16713920 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 19783390 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100 2004
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 17129991 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. 18639757 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017