Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
作者
Thiago Gonçalves Guimarães,Paulo Ribeiro Nóbrega,Fernando Freua,Pedro Lucas Grangeiro de Sá Barreto Lima,Pedro Braga‐Neto,Anderson Rodrigues Brandão de Paiva,Fernando Kok
Abstract Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.