Berkovic S F, McIntosh A, Howell R A, Mitchell A, Sheffield L J, Hopper J L
Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), Victoria, Australia.
Ann Neurol. 1996 Aug;40(2):227-35. doi: 10.1002/ana.410400214.
We describe a new syndrome of familial temporal lobe epilepsy in 38 individuals from 13 unrelated white families. The disorder was first identified in 5 concordant monozygotic twin pairs as part of a large-scale twin study of epilepsy. When idiopathic partial epilepsy syndromes were excluded, the 5 pairs accounted for 23% of monozygotic pairs with partial epilepsies, and 38% of monozygotic pairs with partial epilepsy and no known etiology. Seizure onset for twin and nontwin subjects usually occurred during adolescence or early adult life. Seizure types were simple partial seizures with psychic or autonomic symptoms, infrequent complex partial seizures, and rare secondarily generalized seizures. Electroencephalograms revealed sparse focal temporal interictal epileptiform discharges in 22% of subjects. Magnetic resonance images appeared normal. Nine affected family members (24%) had not been diagnosed prior to the study. Pedigree analysis suggested autosomal dominant inheritance with age-dependent penetrance. The estimated segregation ratio was 0.3, indicating an overall penetrance of 60% assuming autosomal dominant inheritance. The mild and often subtle nature of the symptoms in some family members may account for lack of prior recognition of this common familial partial epilepsy. This disorder has similarities to the El mouse, a genetic model of temporal lobe epilepsy with a major gene on mouse chromosome 9, which is homologous with a region on human chromosome 3.
我们描述了一种新的家族性颞叶癫痫综合征，该综合征存在于来自13个不相关白人家庭的38名个体中。这种疾病最初是在5对同卵双胞胎中被发现的，作为一项大规模癫痫双胞胎研究的一部分。在排除特发性局灶性癫痫综合征后，这5对双胞胎占部分性癫痫同卵双胞胎的23%，占无已知病因的部分性癫痫同卵双胞胎的38%。双胞胎和非双胞胎患者的癫痫发作通常始于青春期或成年早期。发作类型为伴有精神或自主神经症状的简单部分性发作、较少见的复杂部分性发作以及罕见的继发性全身性发作。脑电图显示，22%的患者存在稀疏的颞叶局灶性发作间期癫痫样放电。磁共振成像显示正常。9名受影响的家庭成员（24%）在研究之前未被诊断出。系谱分析提示为常染色体显性遗传，且具有年龄依赖性外显率。估计的分离比为0.3，假设为常染色体显性遗传，这表明总体外显率为60%。一些家庭成员症状轻微且往往不明显，这可能是此前未能识别这种常见家族性局灶性癫痫的原因。这种疾病与El小鼠有相似之处，El小鼠是一种颞叶癫痫的遗传模型，其主要基因位于小鼠9号染色体上，该染色体与人类3号染色体上的一个区域同源。
