Poza J J, Sáenz A, Martínez-Gil A, Cheron N, Cobo A M, Urtasun M, Martí-Massó J F, Grid D, Beckmann J S, Prud'homme J F, López de Munain A
Department of Neurology, Hospital Ntra Sra de Aránzazu, San Sebastián, Spain.
Ann Neurol. 1999 Feb;45(2):182-8. doi: 10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g.
We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising mostly during sleep, without postictal confusion. There is a good response to the antiepileptic therapy but often a recurrence of seizures after drug withdrawal. The partial component, visual (lights, colors, and simple figures) or auditory (buzzing or "humming like a machine"), the existence of temporo-occipital interictal electroencephalographic epileptiform abnormalities, and the hypoperfusion in the temporal lobe detected by interictal hexamethylpropyleneamine oxime-technetium 99m (HMPAO-Tc99m) single-photon emission computed tomography, strongly suggest a lateral temporal lobe origin. The genetic analysis found linkage to chromosome 10q, and localized a gene in a 15-cM interval that overlaps a previously found localization for partial epilepsy in a large three-generation family. This syndrome could be called autosomal dominant lateral temporal epilepsy.
我们报告了一个大家族，其患有以常染色体显性模式遗传的颞叶部分性癫痫综合征，外显率约为80%。这种癫痫综合征是良性的，发病年龄在人生的第二个或第三个十年。其特征为罕见的部分性发作，通常继发全面性发作，大多在睡眠期间发作，发作后无精神错乱。对抗癫痫治疗反应良好，但停药后癫痫发作常复发。部分性发作成分，视觉方面（光、颜色和简单图形）或听觉方面（嗡嗡声或“像机器一样嗡嗡作响”），颞枕叶发作间期脑电图癫痫样异常的存在，以及发作间期六甲基丙烯胺肟 - 锝99m（HMPAO - Tc99m）单光子发射计算机断层扫描检测到的颞叶灌注减低，强烈提示起源于颞叶外侧。基因分析发现与10号染色体长臂连锁，并将一个基因定位在一个15厘摩的区间内，该区间与之前在一个大型三代家族中发现的部分性癫痫的定位区域重叠。这种综合征可称为常染色体显性外侧颞叶癫痫。
