Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A
Virchow University Hospital, Department of Neuropediatrics, Berlin, Germany.
Ann Neurol. 1998 Oct;44(4):700-4. doi: 10.1002/ana.410440420.
Epilepsia partialis continua (EPC) is a rare epileptic syndrome characterized by continuous focal seizures. We report on a 16-year-old girl who died of prolonged pharmacoresistant EPC in whom we identified a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA)(ser(UCN)). Additional symptoms included ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and mental retardation. Quantification revealed 100% mutant mitochondrial DNA (mtDNA) in the patient, 4% in her mother, and none in her half-sister. This highly skewed mtDNA distribution is most improbable (approximately 3 x 10(-30)) if only explained by random genetic drift. Clustering of dysfunctional mitochondria and replicatory advantage of mutant mtDNA may play a role in the rapid segregation towards homoplasmy within one generation.
持续性部分性癫痫（EPC）是一种罕见的癫痫综合征，其特征为持续性局灶性癫痫发作。我们报告了一名16岁死于长期药物抵抗性EPC的女孩，我们在其线粒体转移核糖核酸（tRNA）（ser（UCN））中鉴定出7472insC突变。其他症状包括共济失调、乳酸性酸中毒、肌病、感音神经性听力损失、严重头痛和智力发育迟缓。定量分析显示患者线粒体DNA（mtDNA）100%为突变型，其母亲为4%，其同父异母妹妹则无突变型。如果仅用随机遗传漂变来解释，这种高度偏态的mtDNA分布极不可能（约3×10⁻³⁰）。功能失调的线粒体聚集以及突变型mtDNA的复制优势可能在一代内迅速向同质性分离中起作用。
