Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, Yamamori K, Takahashi Y
National Epilepsy Center, Shizuoka Higashi Hospital, Japan.
Brain. 1997 Jun;120 ( Pt 6):939-53. doi: 10.1093/brain/120.6.939.
Six cases of epilepsy associated with ring chromosome 20 are presented. The study of these cases and 20 cases reported in the literature revealed that they constitute a distinct epileptic syndrome: frequent seizures consisting of a prolonged confusional state, with or without additional motor seizures, and an ictal EEG pattern of long-lasting bilateral paroxysmal high-voltage slow waves with occasional spikes. Neurological examination results were normal, and neuroimaging studies often failed to disclose a brain lesion. The seizures were resistant to antiepileptic drug therapy. Comparison of the electroclinical features of nonconvulsive status epilepticus in six patients with and four patients without ring chromosome 20 revealed that the group with the chromosomal anomaly had more frequent, comparatively brief episodes of confusion associated with a less prominent spike component on the EEG. We propose that epilepsy associated with ring chromosome 20 constitutes a new syndrome that may provide an opportunity to scrutinize a genetic mechanism of epilepsy.
本文报告了6例与20号环状染色体相关的癫痫病例。对这些病例以及文献报道的20例病例的研究表明，它们构成了一种独特的癫痫综合征：频繁发作，包括持续时间较长的意识模糊状态，伴有或不伴有其他运动性发作，发作期脑电图表现为双侧持续性阵发性高电压慢波，偶有棘波。神经学检查结果正常，神经影像学研究往往未能发现脑损伤。这些发作对抗癫痫药物治疗耐药。对6例有20号环状染色体和4例无20号环状染色体的非惊厥性癫痫持续状态患者的电临床特征进行比较，发现有染色体异常的组意识模糊发作更频繁、相对短暂，脑电图上棘波成分不那么突出。我们提出，与20号环状染色体相关的癫痫构成一种新的综合征，这可能为审视癫痫的遗传机制提供机会。
