Autor: Danping Huang

Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review

Mar 27, 2026

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por

Danping Huang

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

BackgroundDiseases associated with the germline PIGA gene include multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) and neurodevelopmental disorder with epilepsy. The clinical heterogeneity of PIGA-related diseases is extensive, so i…