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Article

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

BMC pediatrics - 25 Apr 2022

Tian Maoqiang, Chen Jing, Li Juan, Pan Hong, Lei Wenting, Shu Xiaomei

Abstract excerpt

BACKGROUND: Mutations in PIGN, resulting in a glycosylphosphatidylinositol (GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported a patient with PIGN mutation leading to developmental and epileptic encephalopathy and PNKD, to expand...

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Source

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Identifiers

PMID: 35468813
DOI: 10.1186/s12887-022-03246-w
PMCID: PMC9036787

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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