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Article

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

American journal of medical genetics. Part A - 1 Jan 2026

Wilke Matheus Vernet Machado Bressan, Panwar Deepak, Verheijen Johannes M, Umeshita Saori, Thurman Sarah Allen, Nickels Katherine, Darr Kahlen, Murakami Yoshiko, Klee Eric, Schimmenti Lisa A, Pinto E Vairo Filippo

Abstract excerpt

Post-translational modifications, such as glycosylation and phosphorylation, play a critical role in protein trafficking, interactions, and stability. Disruptions in these pathways can lead to glycosylphosphatidylinositol (GPI) deficiencies, which present with a spectrum of clinical features, including congenital anomalies, dysmorphic features, developmental delay, hypotonia, and epilepsy. Biallelic variants in...

Topics

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Abnormalities, Multiple
Alkaline Phosphatase
Developmental Disabilities
Epilepsies, Myoclonic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glycosylphosphatidylinositols

Intellectual Disability

Mannosyltransferases

Source

Identifiers

PMID: 40799153
DOI: 10.1002/ajmg.a.64220

Genes

PIGV
GPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.PMID 40799153Read ↗

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.Semantic proximity Read ↗

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