关键词: Child neurology Dystrophinopathy Epilepsy Seizure

Mesh : Humans Child Child, Preschool Retrospective Studies Seizures, Febrile Epilepsy / complications epidemiology diagnosis Seizures Medical History Taking Electroencephalography

来  源:   DOI:10.1016/j.yebeh.2023.109595

Abstract:
OBJECTIVE: This study aimed to assess the prevalence and characteristics of epilepsy in dystrophinopathies within a cohort of 142 patients at a tertiary neuromuscular center in Istanbul, Turkey.
METHODS: We recorded the age at seizure onset, seizure type, family history, history of febrile seizures, treatment, and EEG results. Epilepsy was classified according to the latest International League Against Epilepsy (ILAE) classification.
RESULTS: Of the 142 DMD patients, 8 experienced epileptic seizures (5.6 %). The median age of the patients was 11 years (8.0-15.2). The median age for the first DMD symptoms was 24 months (16.5-37.5). All seizures were consistent with generalized tonic-clonic seizures. Three patients are currently on anti-seizure medication.
CONCLUSIONS: The prevalence of epilepsy in our study (5.6 %) exceeds that of the general pediatric population (0.5-1 %). However, the frequency of febrile seizures in children with dystrophinopathy is similar to that of the general population.
摘要:
目的:本研究旨在评估伊斯坦布尔三级神经肌肉中心142名患者的肌萎缩蛋白病中癫痫的患病率和特征。土耳其。
方法:我们记录了癫痫发作时的年龄,癫痫发作类型,家族史,高热惊厥史,治疗,和脑电图结果。癫痫根据最新的国际抗癫痫联盟(ILAE)分类进行分类。
结果:在142例DMD患者中,8例癫痫发作(5.6%)。患者的中位年龄为11岁(8.0-15.2)。首次出现DMD症状的中位年龄为24个月(16.5-37.5)。所有癫痫发作均与全身性强直-阵挛性癫痫发作一致。三名患者目前正在服用抗癫痫药物。
结论:我们的研究中癫痫的患病率(5.6%)超过了普通儿科人群(0.5-1%)。然而,肌营养不良症患儿的高热惊厥频率与一般人群相似。
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