Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

进行性肌阵挛性癫痫7型发作后肌阵挛改善:病例报告

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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.

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