PIGC-related encephalopathy: Lessons learned from 18 new probands.

doi:10.1038/s41431-025-01923-9

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Article

PIGC-related encephalopathy: Lessons learned from 18 new probands.

European journal of human genetics : EJHG - 1 Dec 2025

Bayat Allan, Borroto Maria Carla, Salian Smrithi, Zaki Maha S, Benkerroum Hind, Elbendary Hasnaa M, Nguyen Thi Tuyet Mai, Sadek Abdelrahim A, Carli Diana, Brusco Alfredo, Ferrero Giovanni Battista, Tartaglia Marco, Hay Eleanor, Krey Ilona, A Jamra Rami, Bartolomaeus Tobias, Knaus Alexej, Gleeson Joseph G, Houlden Henry, Dominik Natalia, Jackson Adam, Douzgou Houge Sofia, Banka Siddharth, Mohammadi-Asl Javad, Hajjari Mohammadreza, Azizimalamiri Reza, Nourbakhsh Pardis, Neissi Mostafa, Scardamaglia Annarita, Li Dianfan, Kinoshita Taroh, Maroofian Reza, Murakami Yoshiko, Campeau Philippe M

Abstract excerpt

PIGC encodes a protein essential for the biosynthesis of glycophosphatidylinositol-anchored proteins (GPI-APs). So far, three families with biallelic PIGC variants have been reported to exhibit developmental delay/intellectual disability and seizures. Our aim was to further elucidate the clinical and biomolecular characteristics of PIGC pathogenic or likely pathogenic variants. We established a cohort of 18...

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Identifiers

PMID: 40962973
DOI: 10.1038/s41431-025-01923-9
PMCID: PMC12669652

Genes

PIGC
GPI

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