Familial partial epilepsy with variable foci:: Clinical features and linkage to chromosome 22q12
Familial partial epilepsy with variable foci:: Clinical features and linkage to chromosome 22q12
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DOI：
10.1111/j.0013-9580.2004.30502.x
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发表时间：
2004-09-01
期刊：
影响因子：
5.6
通讯作者：
Pandolfo, J
中科院分区：
文献类型：
--
作者：
Berkovic, SF;Serratosa, JM;Pandolfo, J
背景资料：家族性可变灶部分性癫痫（FPEVF）是一种常染色体显性遗传综合征，其特征是在没有可检测到的结构异常的情况下，起源于不同家族成员不同脑区的部分性癫痫发作。FPEVF的基因被映射到染色体22 q12在两个远亲的法国，加拿大family.Methods：我们描述的临床特征，并进行了连锁分析，在西班牙的亲属和第三个法国，加拿大家庭远亲的原始pedigrees.Results：发作的癫痫发作通常是在童年中期，和攻击通常很容易控制。癫痫症状在家庭成员中各不相同，但每个人都是恒定的。在某些情况下，夜间额叶癫痫发作的模式导致考虑诊断为常染色体显性遗传夜间额叶癫痫（ADNFLE）。西班牙的家庭被映射到染色体22 q（多点lod得分，3.4），和新的法国，加拿大家庭有一个多点lod得分为2.97，并共享的单倍型的原始法国，加拿大family.Conclusions：确定的各种形式的家族性部分癫痫是具有挑战性的，特别是在小家庭，其中存在不足的个人，以确定一个特定的模式。我们为这项任务提供了临床指南，最终将被特异性分子诊断所取代。我们证实了FPEVF与染色体22q12的连锁，并将该区域重新定义为5.2 Mb的DNA片段。
Background: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families.Methods: We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees.Results: Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families.Conclusions: Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern. We provide clinical guidelines for this task, which will eventually be supplanted by specific molecular diagnosis. We confirmed linkage of FPEVF to chromosome 22q 12 and redefined the region to a 5.2-Mb segment of DNA.