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Article

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

Clinical genetics - 1 Nov 2020

Jezela-Stanek Aleksandra, Szczepanik Elżbieta, Mierzewska Hanna, Rydzanicz Małgorzata, Rutkowska Karolina, Knaus Alexej, Śmigiel Robert, Stępniak Iwona, Markiewicz Michał G, Boniel Snir, Krawitz Peter, Płoski Rafał

Abstract excerpt

PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever-sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) or glycosylphosphatidylinositol biosynthesis defect-7. Twenty-eight...

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PMID: 32725661
DOI: 10.1111/cge.13822

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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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