Progress in unraveling the genetic etiology of rolandic epilepsy
Progress in unraveling the genetic etiology of rolandic epilepsy
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DOI：
10.1016/j.seizure.2017.02.012
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发表时间：
2017-04
期刊：
影响因子：
--
通讯作者：
Weixi Xiong;Dong Zhou
中科院分区：
文献类型：
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作者：
Weixi Xiong;Dong Zhou
罗兰德癫痫（英语：Rolandic epilepsy，RE），又称儿童良性癫痫伴中央颞区棘波（英语：benign epilepsy of children with centrotemporal spikes，BECT），是儿童期最常见的特发性部分性癫痫综合征，其中“特发性”意味着遗传易感性。虽然RE长期以来一直被认为具有遗传成分，但临床和遗传研究显示了复杂的遗传模式。此外，RE中潜在的主要遗传影响受到最近双胞胎研究报告的挑战。同时，许多基因或位点已被证明与RE/非典型RE（ARE）谱相关，在ARE中具有更高频率的致病变体。然而，对RE谱的更常见形式的遗传基础的充分理解仍然是难以捉摸的。
Rolandic epilepsy (RE), or benign epilepsy of childhood with centrotemporal spikes (BECT), is the most frequent idiopathic partial epilepsy syndrome of childhood, where the “idiopathic” implies a genetic predisposition. Although RE has long been presumed to have a genetic component, clinical and genetic studies have shown a complex inheritance pattern. Furthermore, the underlying major genetic influence in RE has been challenged by recent reports of twin studies. Meanwhile, many genes or loci have been shown to be associated the RE/atypical RE (ARE) spectrum, with a higher frequency of causative variants in ARE. However, a full understanding of the genetic basis in the more common forms of the RE spectrum remains elusive.