Variant: rs1554778417 

    present in Gene: STXBP1
    present in Chromosome: 9
    Position on Chromosome: 127675802
    Alleles of this Variant: A/G

rs1554778417 in STXBP1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 26384463 2016 Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.