Filamin A Gene Associated Periventricular Nodular eterotopia and Epilepsy in a Cohort of Chinese Patients
Filamin A Gene Associated Periventricular Nodular eterotopia and Epilepsy in a Cohort of Chinese Patients作者机构：Department of Neurology West China Hospital Sichuan University Chengdu Sichuan 610041 China
出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)
年 卷 期：2017年第130卷第20期
页 面：2506-2507页
核心收录：
学科分类：0710[理学-生物学] 090602[农学-预防兽医学] 1002[医学-临床医学] 07[理学] 09[农学] 0906[农学-兽医学] 071006[理学-神经生物学]
主 题：Filamin A： Periventricular Nodular Heterotopia Phenotype Social Support
摘 要：Periventricular nodular heterotopia （PNH） is a cortical malformation commonly found in epilepsy patients caused by the failure of neurons to migrate.Patients with PNH present with various clinical manifestations and genetic mutations. Despite their remarkable structural malformations, PNH patients generally have no neurological deficits or cognitive disabilities. However, particularly in patients with abnormal cortical development, the systematic abnormalities can also be severely delayed.
维普期刊数据库
同方期刊数据库