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Article

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Epilepsia - 1 Feb 2014

Nakamura Kazuyuki, Osaka Hitoshi, Murakami Yoshiko, Anzai Rie, Nishiyama Kiyomi, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Kinoshita Taroh, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

Aberrations in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in fatty-acid GPI-anchor remodeling, are all causative for...

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Source

Identifiers

PMID: 24417746
DOI: 10.1111/epi.12508

Genes

GPI
PIGO
PGAP2
PIGV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.PMID 24417746Read ↗

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.Semantic proximity Read ↗

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

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Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.Semantic proximity Read ↗

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