A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia
A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia作者机构：Department of Neurology China Meitan General Hospital Beijing 100028 China Department of Neurology Graduate School North China University of Science and Technology Tangshan Hebei 063015 China Department of Radiology China Meitan General Hospital Beijing 100028 China
出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)
年 卷 期：2016年第129卷第18期
页 面：2262-2263页
核心收录：
学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学]
基 金：supported by a grant from Capital Health Development Research Special Project
主 题：Novel Mutation Filamin Gene
摘 要：To the Editor： Periventricular nodular heterotopias （PNHs） represent a malformation of cortical development caused by an improper neuronal migration during forebrain formation, There is a wide spectrum of anatomical and clinical presentations of PNH, ranging from asymptomatic small unilateral or bilateral nodules to extensive agglomerates of heterotopia lining the lateral ventricles with epilepsy and intellectual disabilities. The mutations in X-linked gene, filamin A （FLNA） gene, were identified in approximately 100% of familial PNHs and 25% of sporadic cases Here, we reported a novel frameshift mutation of FLNA gene in a Chinese family with PNH.
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