Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
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DOI：
10.1002/ana.410440607
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发表时间：
1998-12-01
影响因子：
11.2
通讯作者：
Mulley, JC
中科院分区：
文献类型：
--
作者：
Scheffer, IE;Phillips, HA;Mulley, JC
可变灶家族性部分性癫痫 (FPEVF) 加入了最近公认的遗传性部分性癫痫组。我们描述了一个澳大利亚家庭，该家庭有 10 人，四代人都患有部分性癫痫发作。对所有受影响的家庭成员和 17 名临床上未受影响的家庭成员进行了详细的电临床研究。惊人的发现是，家庭成员之间的癫痫发作和发作间期脑电图病灶的临床特征不同，包括额叶、颞叶、枕叶和中顶叶癫痫发作。癫痫发作的平均年龄为 13 岁（范围：0.75-43 岁）。两名没有癫痫发作的人在脑电图研究中出现癫痫样异常。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，但在染色体 2q 上发现了连锁建议，与标记 D2S133 的重组分数为零，LOD 得分为 2.74。 FPEVF 与其他遗传性部分性癫痫不同，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，并且受影响的家庭成员之间的发病年龄和电临床特征存在差异，这种新综合征的遗传性质可能会被忽视。
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.