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Article

Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.

Epileptic disorders : international epilepsy journal with videotape - 1 Feb 2018

Mogami Yukiko, Suzuki Yasuhiro, Murakami Yoshiko, Ikeda Tae, Kimura Sadami, Yanagihara Keiko, Okamoto Nobuhiko, Kinoshita Taroh

Abstract excerpt

Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous...

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Source

Identifiers

PMID: 29444765
DOI: 10.1684/epd.2018.0956

Genes

GPI
PIGL

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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