STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Seizures, Focal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.010 GeneticVariation phenotype BEFREE This previously unreported STXBP1 mutation in a subject with neonatal-onset focal seizures broadens the spectrum of clinically relevant human disorders caused by STXBP1 mutations. 22596016 2012