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Article

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Clinical genetics - 1 Feb 2025

Heimer Gali, Pode-Shakked Ben, Marek-Yagel Dina, Vernitsky Helly, Tzadok Michal, Barel Ortal, Eyal Eran, Ben-Zeev Bruria, Atzmon Gil, Anikster Yair

Abstract excerpt

During the past two decades, an emerging group of genes coding for proteins involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis are being implicated in early-infantile epileptic encephalopathy. Amongst these, a hypomorphic promoter mutation in the mannosyltransferase-encoding PIGM gene was described in seven patients to date, exhibiting intractable absence epilepsy, portal and cerebral vein...

Topics

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Child, Preschool
Drug Resistant Epilepsy
Intellectual Disability
Mannosyltransferases
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 39425582
DOI: 10.1111/cge.14629
PMCID: PMC11725556

Genes

PIGM
CD59
GPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.PMID 39425582Read ↗

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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Semantic proximity Read ↗

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Semantic proximity Read ↗

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.Semantic proximity Read ↗

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