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Article

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.

Brain & development - 1 Sept 2016

Kim Young Ok, Yang Jae Hyuk, Park Chungoo, Kim Seul Kee, Kim Myeong-Kyu, Shin Myung-Geun, Woo Young Jong

Abstract excerpt

Early-onset epileptic encephalopathies (EOEEs) are severe and intractable infantile-onset epilepsies with progressive intellectual disability and other associated neurologic comorbidities. Whole-exome sequencing (WES) was recently used to determine the causative gene mutations in individuals with unclassified EOEEs. The present study used WES to determine the causative variant in a family with X-linked, EOEE. One...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26923721
DOI: 10.1016/j.braindev.2016.02.008

Genes

PIGA

Variants

Provenance

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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