伴听觉症状的家族性颞叶外侧癫痫的临床特点及LGI1基因突变检测

Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy

目的研究伴听觉症状的常染色体显性遗传颞叶外侧癫痫（ADLTE）一家系相关基因富亮氨酸胶质瘤失活基因1（LGI1）的突变，探讨该综合征的临床特征及基因基础。方法对该家系进行详细的病史询问和遗传学调查，采集患者和家属血液，按受累同胞对配对法对LGI1基因的8个外显子分别设计引物，用聚合酶链反应（PCR）结合DNA测序，检测该家系中有无LGI1基因外显子突变。结果家系中所有患者符合国际抗癫痫联盟2001年新癫痫综合征标准中ADLTE典型表现，头颅MRI正常，PCR结合DNA序列分析LGI1基因8个外显子未发现突变。结论该家系临床表现与ADLTE相同，但其发病不是由已知的LGI1基因外显子突变所致。

Objective To report the clinical and genetic study of a new Chinese family with autosomal dominant lateral temporal lobe epilepsy （ADLTE）. Methods The living affected members underwent a full clinical, neurophysiological, electroencephalogram （EEG）, and magnetic resonance imaging （ MRI ） study. Genetic analysis was performed by LGI1 DNA sequence analysis. Results The clinical feature of the patients was coincidence well with the definition of ADLTE by International League Against Epilepsy in 2001. The living affected members had an adult or children onset of drug-responsive tonic-clonic seizures or complex partial seizures constantly preceded by auditory or visional aura. Routine EEG revealed no focal abnormalities over both temporal regions. MRI detected no structural abnormality. Analysis of LGI1 gene showed no mutation in all affected members. Conclusion This kindred has typical clinical manifestations of ADLTE. The pathogenesis has no association with mutation of the exons of LGI1 gene.