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

doi:10.1002/jimd.12278

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Article

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

Journal of inherited metabolic disease - 1 Nov 2020

Johnstone Devon L, Nguyen Thi Tuyet Mai, Zambonin Jessica, Kernohan Kristin D, St-Denis Anik, Baratang Nissan V, Hartley Taila, Geraghty Michael T, Richer Julie, Majewski Jacek, Bareke Eric, Guerin Andrea, Pendziwiat Manuela, Pena Loren D M, Braakman Hilde M H, Gripp Karen W, Edmondson Andrew C, He Miao, Spillmann Rebecca C, Eklund Erik A, Bayat Allan, McMillan Hugh J, Boycott Kym M, Campeau Philippe M

Abstract excerpt

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensively reviewed and...

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Identifiers

PMID: 32588908
DOI: 10.1002/jimd.12278
PMCID: PMC7689772

Genes

PIGQ
GPI

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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