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

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2024年5月23日

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Pedro Lucas G S B Lima,
Paulo R Nobrega,
Fernando Freua,
Pedro Braga-Neto,
Anderson R B Paiva,
Thiago Gonçalves Guimarães,
Fernando Kok

摘要

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.