STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Summary Purpose:  Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. To date, 25 patients with heterozygous mutation or deletion of STXBP1 have been reported. A diagnosis of early infantile epi...

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