Deprez L, Peeters K, Van Paesschen W, Claeys K G, Claes L R F, Suls A, Audenaert D, Van Dyck T, Goossens D, Del-Favero J, De Jonghe P
Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.
Neurology. 2007 Jun 5;68(23):1995-2002. doi: 10.1212/01.wnl.0000262764.78511.17. Epub 2007 Apr 25.
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.
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.
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.
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.
在一个患有与偏头痛伴视觉先兆相关的枕颞叶癫痫的大型比利时家族中定位致病基因座，并描述其临床、电生理和影像学特征。
获取了21名家族成员的DNA样本，并进行了8厘摩（cM）密度的全基因组扫描。作者对21名个体进行了访谈，对14名个体进行了发作间期脑电图检查，对13名个体进行了脑部磁共振成像（MRI）检查。
9名高危家族成员和1名已故个体患有伴有枕叶和颞叶症状的癫痫，发病年龄各异，预后通常良好，脑电图无癫痫特征，脑部MRI正常。10例患者中有5例有偏头痛伴先兆病史（p = 0.0026）。除1例患者外，所有患者的癫痫发作和偏头痛发作均为单独发作。3例患者将闪光描述为癫痫和偏头痛的先兆。3例患者癫痫和偏头痛始于同一年龄，2例同时缓解。癫痫表型呈显性遗传模式，外显率降低至75%。在重组率为零时，标记物D9S257的两点连锁对数得分为3.3。基于患病个体中的重组情况，单倍型分析确定了位于9号染色体q21-q22上标记物GATA152H04和D9S253之间9.95厘摩（5.96兆碱基）的候选区域。
该家族中枕颞叶癫痫与偏头痛伴视觉先兆的临床关联以及枕颞叶癫痫/偏头痛伴先兆性状与单个基因座的确切连锁表明存在共同的单基因缺陷。
