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

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 st...

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Detalles Bibliográficos
Autores principales: Tian, Maoqiang, Chen, Jing, Li, Juan, Pan, Hong, Lei, Wenting, Shu, Xiaomei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036787/
https://www.ncbi.nlm.nih.gov/pubmed/35468813
http://dx.doi.org/10.1186/s12887-022-03246-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036787/
https://www.ncbi.nlm.nih.gov/pubmed/35468813
http://dx.doi.org/10.1186/s12887-022-03246-w

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