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Article

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

American journal of medical genetics. Part A - 1 Jan 2016

Fleming Leah, Lemmon Monica, Beck Natalie, Johnson Maria, Mu Weiyi, Murdock David, Bodurtha Joann, Hoover-Fong Julie, Cohn Ronald, Bosemani Thangamadhan, Barañano Kristin, Hamosh Ada

Abstract excerpt

Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26394714
DOI: 10.1002/ajmg.a.37369
PMCID: PMC4886552

Genes

PIGN

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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