Cendes F, Lopes-Cendes I, Andermann E, Andermann F
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Neurology. 1998 Feb;50(2):554-7. doi: 10.1212/wnl.50.2.554.
We describe the clinical characteristics of a group of patients with familial temporal lobe epilepsy (TLE) in 11 kindreds with 36 affected individuals identified and investigated at the Montreal Neurological Hospital. Seizure types were simple partial (n = 20), complex partial (n = 29), and rare generalized tonic-clonic. Simple and complex partial seizures were infrequent or well controlled by anticonvulsant medication in 17 of 29 patients (59%) and without optimal response to medical therapy in 12 of 29 patients (41%). Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance. The syndrome of familial TLE has heterogeneous clinical manifestations and is not always benign.
我们描述了在蒙特利尔神经病学医院确诊并接受调查的11个家族中36例受影响个体所患家族性颞叶癫痫（TLE）患者的临床特征。癫痫发作类型包括单纯部分性发作（n = 20）、复杂部分性发作（n = 29）以及罕见的全身强直阵挛发作。29例患者中，17例（59%）的单纯和复杂部分性发作不频繁或通过抗惊厥药物得到良好控制，12例（41%）对药物治疗反应不佳。系谱分析提示常染色体显性遗传且外显不全。家族性TLE综合征具有异质性临床表现，且并非总是良性的。
