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 CausalMutation disease CLINVAR Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 23086956 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR 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 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 15508916 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Parental SCN1A mutation mosaicism in familial Dravet syndrome. 19673951 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR [Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. 21425109 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. 22150645 2012
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 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 CausalMutation disease CLINVAR Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002
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 CausalMutation disease CLINVAR The SCN1A gene variants and epileptic encephalopathies. 23884151 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 20491869 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 15263074 2004
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Demystifying vaccination-associated encephalopathy. 16713913 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001