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Article

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

Epilepsia - 1 Dec 2010

Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyuki

Abstract excerpt

We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epile...

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Source

Identifiers

PMID: 21204804
DOI: 10.1111/j.1528-1167.2010.02767.x

Genes

STXBP1
ARX
CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21204804-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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