Gene tests in adults with epilepsy and intellectual disability.
Gene tests in adults with epilepsy and intellectual disability.
复制标题
患有癫痫和智力障碍的成人的基因测试。
DOI：
10.1038/s41582-020-0388-5
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Poduri,Annapurna
中科院分区：
文献类型：
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作者：
Ottman,Ruth;Poduri,Annapurna
最近的一项研究描述了癫痫基因小组测试在一组患有癫痫和智力残疾的成年人中的效果和临床应用。这些发现与发育性癫痫脑病儿童的研究结果相似，支持在成年癫痫患者中进行测试的实用性。
A recent study describes the yield and clinical utility of epilepsy gene panel testing in a cohort of adults with epilepsy and intellectual disability. These findings are similar to those in children with developmental epileptic encephalopathies and support the utility of testing in this subgroup of adults with epilepsy.