Epilepsy as part of the phenotype associated with ATP1A2 mutations
Epilepsy as part of the phenotype associated with ATP1A2 mutations
复制标题
DOI：
10.1111/j.1528-1167.2007.01415.x
复制
发表时间：
2008-03-01
期刊：
影响因子：
5.6
通讯作者：
De Jonghe, Peter
中科院分区：
文献类型：
--
作者：
Deprez, Liesbet;Weckhuysen, Sarah;De Jonghe, Peter
目的：在家族性偏瘫型偏头痛（FHM）家系中发现ATP 1A2基因突变。FHM是先兆偏头痛的一种变体，其特征是在先兆期间发生偏瘫。在几个FHM家族中，一些患者也有癫痫发作。在这项研究中，我们测试的假设，ATP1A2突变可能是常见的癫痫和偏头痛患者presented.Methods：我们选择了20个家庭的癫痫和偏头痛和ATP1A2的突变进行分析，在先证者的所有外显子和剪接位点junctions.Results：新的ATP1A2突变被发现在2的20个家庭（10%）。P.Gly900Arg突变存在于一个癫痫和FHM家族中，P.Cys702Tyr突变发生在一个枕颞癫痫和偏头痛伴或不伴视觉先兆的家族中。在这两个家庭在一起，6个突变载体的组合癫痫和偏头痛，只有癫痫，和6只有偏头痛discussion：这项研究表明，偏头痛的历史和癫痫和偏头痛的家族史，应获得在癫痫临床所有癫痫患者。这可能是值得的筛选癫痫和偏头痛的组合和偏头痛或癫痫的ATP1A2基因突变的阳性家族史的患者。
Purpose: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epileptic seizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine.Methods: We selected 20 families with epilepsy and migraine and performed mutation analysis of ATP1A2 in the probands by direct sequencing of all exons and splice-site junctions.Results: Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine with and without visual aura. In the two families together, six mutation carriers had the combination of epilepsy and migraine, two had only epilepsy, and six had only migraine.Discussion: This study shows that a history of migraine and a family history of both epilepsy and migraine should be obtained in all patients presenting with epilepsy in the epilepsy clinic. It may be worthwhile to screen patients with a combination of epilepsy and migraine and a positive family history of either migraine or epilepsy for mutations in the ATP1A2 gene.