Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN 81.25% (13/16) of SCN1A mutations were de novo and 68.8% (11/16) were novel in Dravet syndrome. 30185235

2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought. 26438699

2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome. 24412860

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN1A and PCHD19 mutations. 23808377

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically caused by de novo dominant mutations in the SCN1A gene encoding the voltage-gated sodium channel Na(v) 1.1. 23821540

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 GermlineCausalMutation ORPHANET Dravet syndrome: a genetic epileptic disorder. 23093055

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CTD_human N1417H-Scn1a mutant rats may, therefore, be useful for testing the efficacy of new AEDs against FS in GEFS+ and SMEI patients. 21480876

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN In this study, we report a 12-year-old girl with Dravet syndrome carrying an SCN1A mutation, c.2785Cdel (L929del fsX934). 21647847

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 GermlineCausalMutation ORPHANET The genetics of Dravet syndrome. 21463275

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker 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
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker 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
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Loss-of-function mutations in human SCN1A gene encoding Nav1.1 are associated with a severe epileptic disorder known as severe myoclonic epilepsy in infancy. 17537961

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. 17928448

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker CLINGEN Our results indicate that reduced sodium currents in GABAergic inhibitory interneurons in Scn1a+/- heterozygotes may cause the hyperexcitability that leads to epilepsy in patients with SMEI. 16921370

2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 GermlineCausalMutation ORPHANET Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides. 16458823

2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 Biomarker GENOMICS_ENGLAND Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 16054936

2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 GermlineCausalMutation ORPHANET To investigate the contribution of SCN1A mutations to the etiology of SMEI, we examined nine additional SMEI patients. 12754708

2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.900 GermlineCausalMutation ORPHANET Because both GEFS+ and SMEI involve fever-associated seizures, we screened seven unrelated patients with SMEI for mutations in SCN1A. 11359211

2001