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首页> 外文期刊>Molecular syndromology >Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

机译：22q11.2删除综合征中的全身性癫痫和肌阵挛性发作

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Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABAB receptor.
机译：根据对22q11.2缺失综合征（22q11DS）的青少年肌阵挛性癫痫（JME）和遗传性全身性癫痫（GGE）的复发拷贝数变异的观察结果提示，我们寻找进一步的证据支持22q11DS与GGE和肌阵挛性癫痫发作可能相关。通过常规诊断，我们确定了3个22q11DS和JME的罕见个体。随后，我们筛选了有关22q11DS中癫痫表型的报道。我们还筛选了173名22q11DS患者的数据库，并确定了第四位JME患者和另外2位GGE患者。我们描述了22q11DS和GGE并发的6例新颖病例和22例已发表病例。在许多患者中，GGE与肌阵挛性癫痫发作有关，至少可以诊断出6名JME。 173例22q11DS病例中有17例（10％）被诊断为局灶性或全身性癫痫。在这些情况下，局灶性癫痫通常可归因于与综合征相关的低血钙症，脑出血或脑结构异常。但是，GGE的病因尚不清楚。在这项研究中，我们描述和回顾了28名22q11DS和GGE（尤其是JME）患者，表明这两种疾病经常同时发生。与报告的15-21％的患病率相比，在我们的病例系列中，仅发现10％的22q11DS个体患有癫痫病，通常是GGE。由于22q11.2不包含令人信服的GGE候选基因，因此我们讨论了与GABAB受体相互作用可能引起的病因相关性。

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