Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker GENOMICS_ENGLAND Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes. 26677014

2016

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker GENOMICS_ENGLAND Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes. 26677014

2016