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Article

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Neurology - 6 May 2014

Kato Mitsuhiro, Saitsu Hirotomo, Murakami Yoshiko, Kikuchi Kenjiro, Watanabe Shuei, Iai Mizue, Miya Kazushi, Matsuura Ryuki, Takayama Rumiko, Ohba Chihiro, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hamano Shin-Ichiro, Osaka Hitoshi, Hayasaka Kiyoshi, Kinoshita Taroh, Matsumoto Naomichi

Abstract excerpt

OBJECTIVE: To investigate the clinical spectrum caused by mutations in PIGA at Xp22.2, which is involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor, among patients with early-onset epileptic encephalopathies (EOEEs). METHODS: Whole-exome sequencing was performed as a com...

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Source

Identifiers

PMID: 24706016
DOI: 10.1212/WNL.0000000000000389

Genes

PIGA
GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24706016-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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