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 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 CausalMutation disease CLINVAR Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. 22151702 2012
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 CausalMutation disease CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. 21719429 2011
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 CausalMutation disease CLINVAR Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR 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 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 Biomarker disease MGD Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 22914087 2012
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
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR The SCN1A gene variants and epileptic encephalopathies. 23884151 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685 2006