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

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...

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Veröffentlicht in:	BMC neurology 2024-05, Vol.24 (1), p.169-4, Article 169
Hauptverfasser:	G S B Lima, Pedro Lucas, Nobrega, Paulo R, Freua, Fernando, Braga-Neto, Pedro, Paiva, Anderson R B, Guimarães, Thiago Gonçalves, Kok, Fernando
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Alcohol Ataxia Case Report Case reports Case studies Child development Convulsions & seizures Disease Electroencephalography - methods Epilepsy Female Fever Gait Humans KCNC1 Male Medical research Medicine, Experimental Movement disorders Mutation Myoclonic Epilepsies, Progressive - complications Myoclonic Epilepsies, Progressive - diagnosis Myoclonic epilepsy Myoclonus Myoclonus - complications Myoclonus - diagnosis Myoclonus - drug therapy Myoclonus - etiology Patients Physiological aspects Potassium Seizures Seizures (Medicine) Seizures - complications Seizures - diagnosis Seizures - drug therapy Seizures - etiology Shaw Potassium Channels - genetics Wheelchairs
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Zusammenfassung:	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.
ISSN:	1471-2377 1471-2377
DOI:	10.1186/s12883-024-03625-z