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

Autor: G S B Lima PL; Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil., Nobrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil.; Centro Universitário Christus, Fortaleza, Ceara, Brazil., Freua F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil., Paiva ARB; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Guimarães TG; Movement Disorders Center, Department of Neurology, University of Sao Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, 5th Floor, Room 5084, Cerqueira Cesar, Sao Paulo, Sao Paulo, 05403-900, Brazil. thiagogguimaraesneurologia@gmail.com., Kok F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
Jazyk: angličtina
Zdroj: BMC neurology [BMC Neurol] 2024 May 23; Vol. 24 (1), pp. 169. Date of Electronic Publication: 2024 May 23.
DOI: 10.1186/s12883-024-03625-z
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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