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Article

Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.

Pediatric neurology - 1 Aug 2018

Foskett Gretchen Kissel, Engleman Edgar, Klotz Jenna, Choi Okmi, Tolentino Lorna, Kochhar Aaina, Yang Qian Zhou, Stevenson David A

Abstract excerpt

BACKGROUND: Biallelic variants in PIGW have been suggested to cause infantile spasms and hyperphosphatasia. PIGW encodes for a protein involved in the third step of glycosylphosphatidylinositol (GPI) synthesis. GPI anchored proteins are increasingly recognized as important structures for cellular interactions and neuronal development. METHODS: Molecular testing of PIGW was performed followed by fluorescence...

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Source

Identifiers

PMID: 30078644
DOI: 10.1016/j.pediatrneurol.2018.05.010

Genes

PIGW
GPI

Variants

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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