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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Epilepsy and Mitochondrial Dysfunction A Single Center?￠????s Experience
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Epilepsy and Mitochondrial Dysfunction A Single Center?￠????s Experience

机译：癫痫和线粒体功能障碍一个中心的经验

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Epilepsy is a common manifestation of mitochondrial disease. In a large cohort of children and adolescents with mitochondrial disease (n = 180), over 48% of patients developed seizures. The majority (68%) of patients were younger than 3 years and medically intractable (90%). The electroencephalographic pattern of multiregional epileptiform discharges over the left and right hemisphere with background slowing occurred in 62%. The epilepsy syndrome, infantile spasms, was seen in 17%. Polymerase ???3 mutations were the most common genetic etiology of seizures, representing Alpers-Huttenlocher syndrome (14%). The severity of disease in those patients with epilepsy was significant, as 13% of patients experienced early death. Simply the loss of energy production cannot explain the development of seizures or all patients with mitochondrial dysfunction would have epilepsy. Until the various aspects of mitochondrial physiology that are involved in proper brain development are understood, epilepsy and its treatment will remain unsatisfactory.
机译：癫痫是线粒体疾病的常见表现。在大量患有线粒体疾病的儿童和青少年中（n = 180），超过48％的患者会出现癫痫发作。大多数患者（68％）年龄小于3岁，并且在医学上顽固（90％）。左半球和右半球的多区域癫痫样放电的脑电图模式有背景减慢的发生率为62％。癫痫综合征（婴儿痉挛）占17％。聚合酶3突变是癫痫发作最常见的遗传病因，代表Alpers-Huttenlocher综合征（14％）。在那些癫痫患者中，疾病的严重程度很明显，因为13％的患者经历了早期死亡。只是能量生产的丧失不能解释癫痫发作的发展，否则所有线粒体功能障碍的患者都会患有癫痫病。在了解与大脑正常发育有关的线粒体生理的各个方面之前，癫痫及其治疗仍将不能令人满意。

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