Mitochondria are vital organelles within cells that undertake many important metabolic roles, the most significant of which is to generate energy to support organ function. Dysfunction of the mitochondrion can lead to a wide range of clinical features, predominantly affecting organs with a high metabolic demand such as the brain. One of the main neurological manifestations of mitochondrial disease is metabolic epilepsies. These epileptic seizures are more frequently of posterior quadrant and occipital lobe onset, more likely to present with non-convulsive status epilepticus which may last months and be more resistant to treatment from the onset. The onset of can be of any age. Childhood onset epilepsy is a major phenotypic feature in mitochondrial disorders such as Alpers-Huttenlocher syndrome, pyruvate dehydrogenase complex deficiencies, and Leigh syndrome. Meanwhile, adults with classical mitochondrial disease syndrome such as MELAS, MERFF or POLG-related disorders could present with either focal or generalised seizures. There are no specific curative treatments for mitochondrial epilepsy. Generally, the epileptic seizures should be managed by specialist neurologist with appropriate use of anticonvulsants. As a general rule, especially in disorders associated with mutation in POLG, sodium valproate is best avoided because hepato-toxicity can be fulminant and fatal.

中文翻译：

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线粒体癫痫

线粒体是细胞内的重要细胞器，承担着许多重要的代谢作用，其中最重要的是产生能量以支持器官功能。线粒体功能障碍可导致广泛的临床特征，主要影响具有高代谢需求的器官，如大脑。线粒体疾病的主要神经学表现之一是代谢性癫痫。这些癫痫发作更常见于后象限和枕叶发作，更可能表现为持续数月的非惊厥性癫痫持续状态，并且从发作开始就对治疗更具抵抗力。发病年龄可以是任何年龄。儿童期癫痫是线粒体疾病的主要表型特征，如 Alpers-Huttenlocher 综合征、丙酮酸脱氢酶复合物缺陷、和利综合征。同时，患有经典线粒体疾病综合征（如 MELAS、MERFF 或 POLG 相关疾病）的成年人可能会出现局灶性或全身性癫痫发作。线粒体癫痫没有特定的治疗方法。通常，癫痫发作应由神经专科医师在适当使用抗惊厥药的情况下进行治疗。作为一般规则，尤其是在与 POLG 突变相关的疾病中，最好避免使用丙戊酸钠，因​​为肝毒性可能是暴发性和致命的。癫痫发作应由神经专科医师在适当使用抗惊厥药的情况下进行管理。作为一般规则，尤其是在与 POLG 突变相关的疾病中，最好避免使用丙戊酸钠，因​​为肝毒性可能是暴发性和致命的。癫痫发作应由神经专科医师在适当使用抗惊厥药的情况下进行管理。作为一般规则，尤其是在与 POLG 突变相关的疾病中，最好避免使用丙戊酸钠，因​​为肝毒性可能是暴发性和致命的。