Familial occipitotemporal lobe epilepsy and migraine with visual aura - Linkage to chromosome 9q
Familial occipitotemporal lobe epilepsy and migraine with visual aura - Linkage to chromosome 9q
复制标题
DOI：
10.1212/01.wnl.0000262764.78511.17
复制
发表时间：
2007-06-05
期刊：
影响因子：
9.9
通讯作者：
De Jonghe, P.
中科院分区：
文献类型：
--
作者：
Deprez, L.;Peeters, K.;De Jonghe, P.
目的：绘制一个伴有视觉先兆的比利时枕颞叶癫痫家系的致病基因图谱，并描述其临床、电生理和影像特征。方法：获取21个家系成员的DNA样本，进行8 cM密度全基因组扫描。作者采访了21人，其中14人进行了发作间期脑电检查，13人进行了脑MRI检查。结果：9名高危家族成员和1名已故患者均为癫痫患者，有枕叶和颞叶症状，发病年龄可变，预后一般良好，无癫痫脑电特征，脑MRI正常。10名患者中有5名有偏头痛先兆的病史(p=0.0026)。除了一名患者外，所有患者的癫痫发作和偏头痛发作都是单独发作的。三名患者将闪光描述为癫痫和偏头痛先兆。三名癫痫和偏头痛患者在同一年龄开始发作，两名患者同时缓解。癫痫表型以显性遗传方式为主，外显率降低75%。在重组分数为零时，标记D9S257的确凿的两点Lod得分为3.3。单倍型分析在位于染色体9q21-q22的标记GATA152H04和D9S253之间定义了9.95 cM(5.96Mb)的候选区域。结论：在这个具有视觉先兆的枕颞叶癫痫和偏头痛家系中，临床上存在与先兆有关的临床关联，而具有先兆特征的枕颞叶癫痫/偏头痛与单个基因位点的确凿联系提示了共同的单基因缺陷。
Objective: To map the disease-causing locus in a large Belgian family with occipitotemporal lobe epilepsy associated with migraine with visual aura and to describe the clinical, electrophysiologic, and imaging characteristics. Methods: DNA samples from 21 family members were obtained and an 8 cM density genome-wide scan was performed. The authors interviewed 21 individuals and performed interictal EEG in 14 and brain MRI in 13 individuals. Results: Nine at risk family members and one deceased individual had epilepsy with occipital and temporal lobe symptomatology, variable age at onset, usually good prognosis, no epileptic EEG features, and normal brain MRI. Five of the 10 patients had a history of migraine with aura (p = 0.0026). Seizures and migraine attacks occurred as separate episodes in all but one patient. Three patients described light flashes both as epileptic and migraine aura. Epilepsy and migraine started at the same age in three patients and remitted simultaneously in two. The epileptic phenotype had a dominant mode of inheritance with a reduced penetrance of 75%. A conclusive two-point lod score of 3.3 was obtained for marker D9S257 at recombination fraction zero. Haplotype analysis defined a candidate region of 9.95 cM (5.96 Mb) between markers GATA152H04 and D9S253 located at chromosome 9q21-q22 based upon recombinations in affected individuals. Conclusions: The clinical association in this family of occipitotemporal lobe epilepsy and migraine with visual aura and the conclusive linkage of the occipitotemporal lobe epilepsy/ migraine with aura trait to a single locus suggests a common monogenic gene defect.