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Article

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Human molecular genetics - 1 May 2017

Johnstone Devon L, Nguyen Thi-Tuyet-Mai, Murakami Yoshiko, Kernohan Kristin D, Tétreault Martine, Goldsmith Claire, Doja Asif, Wagner Justin D, Huang Lijia, Hartley Taila, St-Denis Anik, le Deist Françoise, Majewski Jacek, Bulman Dennis E, Kinoshita Taroh, Dyment David A, Boycott Kym M, Campeau Philippe M

Abstract excerpt

There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylphosphatidylinositols

Share to Hemoglobinuria, Paroxysmal

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Share to Muscle Hypotonia

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Source

Identifiers

PMID: 28334793
DOI: 10.1093/hmg/ddx077

Genes

PIGP
GPI

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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