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首页> 外文期刊>Clinical EEG and neuroscience: official journal of the EEG and Clinical Neuroscience Society (ENCS) >Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies
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Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies

机译：SCN1A相关癫痫中的患者颞型硬化症：两个长期EEG案例研究

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摘要

Patients with temporal lobe epilepsy (TLE) due to mesial temporal sclerosis (MTS) are eligible candidates for resective epilepsy surgery. We report on 2 male patients aged 4 years with suspected TLE due to MTS who were referred for presurgical evaluation. Both patients came to medical attention within the first year of life suffering from febrile status epileptici and subsequent unprovoked seizures. The following years, moderate developmental delay was present. High-resolution magnetic resonance imaging confirmed hippocampal sclerosis. Continuous EEG video monitoring revealed seizure patterns contralateral to the MTS in both patients. Genetic analysis was performed as both the clinical presentation of the patients and EEG video monitoring findings were not consistent with the presence of the hippocampal sclerosis alone and revealed de novo mutations within exon of the SCN1A gene. Resective surgical strategies were omitted due to the genetic findings. In conclusion, both patients suffered from a dual pathology syndrome with (a) TLE related to MTS resulting most likely from recurrent febrile status in early childhood and (b) Dravet syndrome, which is most likely the cause of the febrile convulsions leading to the MTS in these 2 patients.
机译：患有颞叶癫痫（TLE）的患者由于薄层颞延长（MTS）是竞争性癫痫手术的合格候选者。由于涉及预设评估的MTS，我们报告了2岁以下的男性患者4岁以下的疑似特色。两名患者在患有发热状态癫痫患者的第一年和随后的未加工癫痫发作中，这两名患者都在医疗。接下来的几年，存在适度的发展延迟。高分辨率磁共振成像证实了海马硬化。连续EEG视频监测揭示了对两位患者中MTS的癫痫发作模式。作为患者和脑电图视频监测结果的临床介绍术语和EEG视频监测结果的临床介绍并不一致，并且在SCN1A基因的外显子内揭示了De Novo突变。由于遗传调查结果，省略了敏锐的手术策略。总之，两名患者都患有双病理学综合征，其与MTS相关的（a）相关，导致幼儿早期和（b）Dravet综合征的复发性发育状况，这是最有可能导致MTS的发热惊厥的原因在这2名患者中。

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