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Article

[New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2021

Cao Mi, Liu Chao, Wei Zihan, Qiao Xiaozhi, Deng Yanchun

Abstract excerpt

OBJECTIVE: To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure. METHODS: The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants. RESULTS: In three female patients, head...

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PMID: 34247364
DOI: 10.3760/cma.j.cn511374-20200312-00157

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