Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, QEII Medical Centre, B block, Nedlands, WA 6009, Australia.
Epilepsy Res. 2011 Sep;96(1-2):101-8. doi: 10.1016/j.eplepsyres.2011.05.006. Epub 2011 Jun 8.
We aimed to characterise the phenotype and perform genetic studies in a family of Roma/Gypsy ethnicity, affected by epilepsy. The mean age at onset of epilepsy was 9 years and seizures persisted into adulthood. Antecedent febrile convulsions were rare. Seizure semiology and EEG findings suggested mesial temporal lobe origin with no evidence of hippocampal sclerosis. Seizures frequently generalised. Family structure suggested autosomal-dominant inheritance with incomplete penetrance. Linkage analysis identified a single novel locus on 7p21.3, corresponding to the expected maximum in the family. Previously reported temporal lobe epilepsy (TLE) loci were definitely excluded. The minimal shared haplotype of 2.4cM (1.3Mb) was not observed in other affected families or controls from the same population. Three brain-expressed validated genes in the critical region represent potential candidates. We have identified an epilepsy syndrome with temporal lobe seizures commonly evolving to generalised convulsions. Linkage to 7p21.3 adds up to a total of five currently known FTLE loci.
我们的目的是对一个受癫痫影响的罗姆/吉普赛人家庭进行表型特征分析和遗传研究。癫痫的平均发病年龄为 9 岁，且癫痫持续到成年。前驱性热性惊厥很少见。癫痫发作的症状学和脑电图结果提示起源于内侧颞叶，没有海马硬化的证据。癫痫发作常为全面性发作。家族结构提示常染色体显性遗传，不完全外显。连锁分析确定了 7p21.3 上的一个单一新位点，与家族中的预期最大值相对应。先前报道的颞叶癫痫 (TLE) 位点已被明确排除。在其他受影响的家族或来自同一人群的对照中，未观察到最小共享单倍型为 2.4cM（1.3Mb）。在关键区域的三个大脑表达的经过验证的基因是潜在的候选基因。我们已经确定了一种癫痫综合征，其特征是颞叶癫痫发作，通常发展为全面性惊厥。与 7p21.3 的连锁增加了目前已知的总共五个 FTLE 位点。
