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Article

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.

Brain & development - 1 Mar 2016

Yamamoto Toshiyuki, Shimojima Keiko, Yano Tamami, Ueda Yuki, Takayama Rumiko, Ikeda Hiroko, Imai Katsumi

Abstract excerpt

Epileptic encephalopathy, which commences during early infancy, is a severe epileptic syndrome that manifests as age-dependent seizures and severe developmental delay. The syntaxin-binding protein 1 gene (STXBP1) is one of the genes responsible for epileptic encephalopathy. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing...

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Source

Identifiers

PMID: 26384463
DOI: 10.1016/j.braindev.2015.09.004

Genes

STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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