Scheffer I E, Phillips H A, O'Brien C E, Saling M M, Wrennall J A, Wallace R H, Mulley J C, Berkovic S F
Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), University of Melbourne, Victoria, Australia.
Ann Neurol. 1998 Dec;44(6):890-9. doi: 10.1002/ana.410440607.
Familial partial epilepsy with variable foci (FPEVF) joins the recently recognized group of inherited partial epilepsies. We describe an Australian family with 10 individuals with partial seizures over four generations. Detailed electroclinical studies were performed on all affected and 17 clinically unaffected family members. The striking finding was that the clinical features of the seizures and interictal electroencephalographic foci differed among family members and included frontal, temporal, occipital, and centroparietal seizures. Mean age of seizure onset was 13 years (range, 0.75-43 years). Two individuals without seizures had epileptiform abnormalities on electroencephalographic studies. Penetrance of seizures was 62%. A genome-wide search failed to demonstrate definitive linkage, but a suggestion of linkage was found on chromosome 2q with a LOD score of 2.74 at recombination fraction of zero with the marker D2S133. FPEVF differs from the other inherited partial epilepsies where partial seizures in different family members are clinically similar. The inherited nature of this new syndrome may be overlooked because of relatively low penetrance and because of the variability in age at onset and electroclinical features between affected family members.
家族性可变病灶性部分性癫痫（FPEVF）属于最近才被认识的遗传性部分性癫痫组。我们描述了一个澳大利亚家族，四代中有10人患有部分性癫痫发作。对所有受影响的家庭成员以及17名临床未受影响的家庭成员进行了详细的电临床研究。显著的发现是，癫痫发作的临床特征和发作间期脑电图病灶在家庭成员之间存在差异，包括额叶、颞叶、枕叶和中央顶叶癫痫发作。癫痫发作的平均起病年龄为13岁（范围为0.75 - 43岁）。两名无癫痫发作的个体在脑电图研究中有癫痫样异常。癫痫发作的外显率为62%。全基因组搜索未能证明明确的连锁关系，但在2号染色体上发现了连锁的迹象，在与标记D2S133的重组率为零时，LOD分数为2.74。FPEVF与其他遗传性部分性癫痫不同，在其他遗传性部分性癫痫中，不同家庭成员的部分性癫痫发作在临床上相似。由于外显率相对较低，以及受影响家庭成员之间起病年龄和电临床特征的变异性，这种新综合征的遗传性质可能会被忽视。
