DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood
DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood
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DOI：
10.1002/ana.24127
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发表时间：
2014-05-01
影响因子：
11.2
通讯作者：
Neubauer, Bernd A.
中科院分区：
文献类型：
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作者：
Lal, Dennis;Reinthaler, Eva M.;Neubauer, Bernd A.
最近的研究报告DEPDC 5功能丧失突变在不同的局灶性癫痫综合征。我们在3例（3/207）罗兰癫痫患儿中发现了1个可预测的截断突变和2个错义突变。此外，我们确定了3个未分类的局灶性儿童癫痫携带预测截断DEPDC 5突变的家庭（82个中的3个）。检测到的变异都是新的，遗传的，并存在于所有测试的受影响（n=11）和7个未受影响的家庭成员，表明低突变率。我们的研究结果扩展了与DEPDC 5突变相关的表型谱，并表明罗兰癫痫（尽管很少见）和其他非病灶性儿童癫痫是相关综合征。
Recent studies reported DEPDC5 loss-of-function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandic epilepsy (3 of 207). In addition, we identified 3 families with unclassified focal childhood epilepsies carrying predicted truncating DEPDC5 mutations (3 of 82). The detected variants were all novel, inherited, and present in all tested affected (n=11) and in 7 unaffected family members, indicating low penetrance. Our findings extend the phenotypic spectrum associated with mutations in DEPDC5 and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes.