Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
European Journal of Medical Genetics(2014)
摘要
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, is a gene causing epileptic encephalopathy. Mutations in STXBP1 have first been reported in early onset epileptic encephalopathy with suppression-bursts, then in infantile spasms and, more recently, in patients with non syndromic mental retardation without epilepsy.
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关键词
STXBP1,MUNC18.1,Infantile spasms,Epileptic encephalopathies
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