Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker CLINGEN Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. 30779207

2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker CLINGEN Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 28794249

2017