Epilepsy phenotype in patients with Xp22.31 microduplication
Epilepsy phenotype in patients with Xp22.31 microduplication
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DOI：
10.1016/j.ebcr.2018.10.004
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发表时间：
2019-01-01
影响因子：
--
通讯作者：
Matricardi, Maria
中科院分区：
文献类型：
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作者：
Brinciotti, Mario;Fioriello, Francesca;Matricardi, Maria
Xp22.31微重复的临床意义尚不清楚。我们描述了一个家庭，其中一个母亲和两个孩子有Xp22.31微重复与不同形式的癫痫和癫痫样脑电图异常。先证者患有良性癫痫伴中央颞区棘波伴书写障碍和计算障碍（智商72），其姐姐患有青少年肌阵挛性癫痫，两人均患有双侧足畸形。这位母亲是微复制的携带者，但没有任何症状。无症状的父亲没有微重复。这些数据有助于描述与Xp22.31微重复相关的表型，并提示癫痫表型的潜在致病作用。(C)2018作者爱思唯尔公司出版
The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes with dysgraphia and dyscalculia (IQ 72), the sister had juvenile myoclonic epilepsy, and both had bilateral talipes anomalies. The mother, who was the carrier of the microduplication, was asymptomatic. The asymptomatic father did not possess the microduplication. These data contribute to delineate the phenotype associated with Xp22.31 microduplication and suggest a potential pathogenic role for an epilepsy phenotype. (C) 2018 The Authors. Published by Elsevier Inc.