Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report-Reference-Cited by-同舟云学术

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

Published:2024-05-23 Issue:1 Volume:24 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

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

Abstract

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.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s12883-024-03625-z.pdf

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