Source: UNIPROT ×
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 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
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 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 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 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 14504318 2003
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 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
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 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 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 16122630 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 16210358 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 16458823 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 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 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685 2006
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 The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202 2007
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 GeneticVariation disease UNIPROT Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
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 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 GeneticVariation disease UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458 2010