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

Abstract 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....

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Main Authors: Maoqiang Tian, Jing Chen, Juan Li, Hong Pan, Wenting Lei, Xiaomei Shu
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2022-04-01
Serier:BMC Pediatrics
Fag:
Multiple congenital anomalies-hypotonia-seizures syndrome
Paroxysmal nonkinesigenic dyskinesia
PIGN gene; seizure
Online adgang:https://doi.org/10.1186/s12887-022-03246-w
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