Engelsen Bernt A, Tzoulis Charalampos, Karlsen Bjørn, Lillebø Atle, Laegreid Liv M, Aasly Jan, Zeviani Massimo, Bindoff Laurence A
Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway.
Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30.
The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time. Irrespective of genotype, patients developed an epileptic syndrome with initial features of occipital lobe epilepsy. Occipital seizure phenomena included flickering coloured light, sometimes persisting for weeks, months or even years, ictal visual loss, horizontal/vertical nystagmus or oculoclonus, dysmorphopsia, micro-/macropsia and palinopsia. Most patients developed simple partial seizure phenomena with motor symptoms suggesting frontal lobe seizure initiation or spread. Simple and complex partial seizures, clonic- and/or myoclonic seizures with epilepsia partialis continua and frequent convulsive status epilepticus were observed in this syndrome that appears to be a symptomatic and secondary generalized or multifocal epilepsy with focal occipital predilection. The mean age of seizure presentation was 18.4 years (6-58 years). All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate.
本文报告了19例（来自15个家庭）因POLG1基因突变导致线粒体疾病患者的癫痫发作症状学。这些患者要么是1399G＞A（p.A467T）或2243G＞C（p.W748S）突变的纯合子，要么是这两种突变的复合杂合子。虽然已经对临床特征进行了综述，但首次对其癫痫发作情况进行了详细分析。无论基因型如何，患者均出现了以枕叶癫痫为初始特征的癫痫综合征。枕叶发作现象包括闪烁的彩色光，有时持续数周、数月甚至数年，发作期视力丧失，水平/垂直眼球震颤或眼球阵挛，视物变形，视物显小症/视物显大症和视觉后像。大多数患者出现简单部分性发作现象，伴有提示额叶癫痫起始或扩散的运动症状。在该综合征中观察到简单和复杂部分性发作、伴有持续性部分性癫痫的阵挛性和/或肌阵挛性发作以及频繁的惊厥性癫痫持续状态，该综合征似乎是一种有症状的继发性全身性或多灶性癫痫，以枕叶病灶为主。癫痫发作的平均年龄为18.4岁（6 - 58岁）。所有患者均出现癫痫持续状态，11例患者死亡，均与长时间惊厥性癫痫持续状态有关，其中2例因丙戊酸钠治疗明显诱发肝功能衰竭。
