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

Autor:	G S B Lima, Pedro Lucas, Nobrega, Paulo R, Freua, Fernando, Braga-Neto, Pedro, Paiva, Anderson R B, Guimarães, Thiago Gonçalves, Kok, Fernando
Předmět:	EPILEPSY MYOCLONUS SEIZURES (Medicine) RARE diseases MOVEMENT disorders DIAGNOSIS
Zdroj:	BMC Neurology; 5/23/2024, Vol. 24 Issue 1, p1-4, 4p
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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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