PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect

The PIGA gene plays a critical role in glycosylphosphatidylinositol (GPI) biosynthesis. PIGA variants have been linked to multiple congenital anomalies-hypotonia-seizures syndrome 2. While epilepsy is a common manifestation and patients usually show developmental delay, it is unclear whether PIGA variants are associated with pure epilepsy. […] Six PIGA variants were identified in seven unrelated cases with focal epilepsy. […] Further analysis revealed that variants associated with a severe phenotype were located within the GPI biosynthesis domain, whereas variants associated with focal epilepsy and a favorable outcome were outside functional domains, suggesting a sub-molecular effect.