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

Authors :
Pedro Lucas G S B Lima
Paulo R Nobrega
Fernando Freua
Pedro Braga-Neto
Anderson R B Paiva
Thiago Gonçalves Guimarães
Fernando Kok
Source :
BMC Neurology, Vol 24, Iss 1, Pp 1-4 (2024)
Publication Year :
2024
Publisher :
BMC, 2024.

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.

Details

Language :
English
ISSN :
14712377
Volume :
24
Issue :
1
Database :
Directory of Open Access Journals
Journal :
BMC Neurology
Publication Type :
Academic Journal
Accession number :
edsdoj.6c169e2f170342bb84a318229fa91777
Document Type :
article
Full Text :
https://doi.org/10.1186/s12883-024-03625-z