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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
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 CausalMutation disease CLINVAR Parental SCN1A mutation mosaicism in familial Dravet syndrome. 19673951 2009
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 Biomarker disease MGD Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. 29329111 2018
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 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 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 CausalMutation disease CLINVAR Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. 22150645 2012