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

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.

SUBMITTER: G S B Lima PL 

PROVIDER: S-EPMC11112770 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature