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Article

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.

Brain & development - 1 Jan 2018

Kohashi Kosuke, Ishiyama Akihiko, Yuasa Shota, Tanaka Tomomi, Miya Kazushi, Adachi Yuichi, Sato Noriko, Saitsu Hirotomo, Ohba Chihiro, Matsumoto Naomichi, Murakami Yoshiko, Kinoshita Taroh, Sugai Kenji, Sasaki Masayuki

Abstract excerpt

We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas....

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Source

Identifiers

PMID: 28728837
DOI: 10.1016/j.braindev.2017.06.005

Genes

GPI
PIGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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