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[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Qian Ping, Yang Xiaoling, Xu Xiaojing, Liu Xiaoyan, Zhang Yuehua, Yang Zhixian

Abstract excerpt

OBJECTIVE: To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders. METHODS: One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT)...

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PMID: 29896722
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.002

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