Progressive Myoclonus Epilepsy 9 (EMP9)

Progressive Myoclonus Epilepsy 9, also known as progressive myoclonic epilepsy due to lmnb2 deficiency, is related to epilepsy, progressive myoclonic, 9 and severe congenital neutropenia 1. An important gene associated with Progressive Myoclonus Epilepsy 9 is PPP4R3C (Protein Phosphatase 4 Regulatory Subunit 3C), and among its related pathways/superpathways are Complex I biogenesis and 16p11.2 proximal deletion syndrome.