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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Intra-familial incidence and characteristics of hot water epilepsy.
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Intra-familial incidence and characteristics of hot water epilepsy.

机译：家族性发病和热水癫痫的特征。

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OBJECTIVE: To assess the clinical features of several members of the same family diagnosed with both hot water epilepsy (HWE) and cerebral lesions. METHODS: Age at onset and types of seizure, precipitating factors, EEG findings, and neuroimages were evaluated. RESULTS: The family consisted of six generations, including one consanguineous parent. Of eight family members diagnosed with epilepsy, seven suffered from HWE. Age at onset of seizures ranged within childhood. Seven patients with HWE experienced complex partial seizures, with or without secondary generalization; one experienced simple partial seizures as well as complex partial seizures. Three patients experienced spontaneous seizures as well as HWE. Interictal EEG revealed abnormalities in two patients. Magnetic resonance imaging revealed cerebral lesions in one patient, probably attributable to ischemic changes. Magnetic resonance images were consistent with findings of ischemic gliosis in two patients, and either demyelinating or ischemic gliosis in one patient. CONCLUSIONS: Descriptions of HWE families with different ethnic backgrounds may permit more definite conclusions regarding the mechanisms epileptogenesis, and the genetic defects that underlie this disease.
机译：目的：评估被诊断患有热水癫痫（HWE）和脑部病变的同一家族的几名成员的临床特征。方法：评估发作的年龄和发作类型，诱发因素，脑电图结果和神经影像。结果：该家庭由六代人组成，包括一名近亲。在八名被诊断患有癫痫的家庭成员中，有七名患有HWE。癫痫发作的年龄范围在儿童时期。 7例HWE患者经历了复杂的部分性癫痫发作，伴或不伴有继发性泛化。一例经历了简单的部分性发作以及复杂的部分性发作。三名患者发生了自发性癫痫发作以及HWE。发作间期脑电图显示两名患者异常。磁共振成像显示一名患者的脑部病变，可能归因于缺血性变化。磁共振图像与两名患者缺血性胶质增生的发现相符，并且与一名患者的脱髓鞘或缺血性胶质增生相符。结论：不同种族背景的HWE家庭的描述可能允许有关癫痫发生的机制和该疾病的遗传缺陷的更明确的结论。

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