<i>STXBP1</i> mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Abstract

Collectively, STXBP1 aberrations can account for about one-third individuals with EIEE (14 of 43). These genetic and biologic data clearly showed that haploinsufficiency of STXBP1 is the important cause for cryptogenic EIEE.