Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
KCNC1
Case report
Epilepsy
Movement disorders
Myoclonus
Journal
BMC neurology
ISSN: 1471-2377
Titre abrégé: BMC Neurol
Pays: England
ID NLM: 100968555
Informations de publication
Date de publication:
23 May 2024
23 May 2024
Historique:
received:
26
12
2023
accepted:
05
04
2024
medline:
24
5
2024
pubmed:
24
5
2024
entrez:
23
5
2024
Statut:
epublish
Résumé
Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Sections du résumé
BACKGROUND
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
METHODS
We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures.
DISCUSSION
CONCLUSIONS
Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Identifiants
pubmed: 38783211
doi: 10.1186/s12883-024-03625-z
pii: 10.1186/s12883-024-03625-z
doi:
Substances chimiques
KCNC1 protein, human
0
Shaw Potassium Channels
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
169Informations de copyright
© 2024. The Author(s).
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