进行性肌阵挛性癫痫
肌阵挛
医学
癫痫
肌阵挛性癫痫
神经学
神经化学
癫痫综合征
儿科
精神科
作者
Pedro Lucas G. S. B. Lima,Paulo Ribeiro Nóbrega,Fernando Freua,Pedro Braga‐Neto,Anderson Rodrigues Brandão de Paiva,Thiago Gonçalves Guimarães,Fernando Kok
出处
期刊:BMC Neurology
[BioMed Central]
日期:2024-05-23
卷期号:24 (1)
被引量:2
标识
DOI:10.1186/s12883-024-03625-z
摘要
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.
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