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- Title
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
- Authors
G S B Lima, Pedro Lucas; Nobrega, Paulo R; Freua, Fernando; Braga-Neto, Pedro; Paiva, Anderson R B; Guimarães, Thiago Gonçalves; Kok, Fernando
- 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.
- Subjects
EPILEPSY; MYOCLONUS; SEIZURES (Medicine); RARE diseases; MOVEMENT disorders; DIAGNOSIS
- Publication
BMC Neurology, 2024, Vol 24, Issue 1, p1
- ISSN
1471-2377
- Publication type
Case Study
- DOI
10.1186/s12883-024-03625-z