De novo mutations in the PIGA gene, involved in the synthesis of GPI (glycosylphosphatidylinositol), cause a severe form of early onset epilepsy. Children suffering from this condition exhibit developmental delay with early-onset epilepsy, severe dysmorphic signs, multi-visceral anomalies and early death in the most severe forms. This new study, published in the European Journal of Paediatric Neurology, improves our understanding of the condition.
https://pubmed.ncbi.nlm.nih.gov/32694024/