[Genetic variations and epilepsy].
作者信息
Sun Yan, Yin Fei
机构信息
Department of Pediatrics, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):952-955. doi: 10.7499/j.issn.1008-8830.2017.09.002.
Abstract
摘要
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The impact of genetic and experimental studies on classification and therapy of the epilepsies.基因和实验研究对癫痫分类及治疗的影响。
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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.国际抗癫痫联盟癫痫分类：国际抗癫痫联盟分类与术语委员会立场文件
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Epilepsy-associated genes.癫痫相关基因
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Primer Part 1-The building blocks of epilepsy genetics.第一部分引言——癫痫遗传学的基石
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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.吡哆醇依赖性癫痫：不断扩展的临床谱
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Autosomal ring chromosomes in human genetic disorders.常染色体环状染色体与人类遗传疾病。
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Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.初诊时诊断葡萄糖转运蛋白 1 缺乏症有助于早期治疗。
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The contribution of next generation sequencing to epilepsy genetics.下一代测序技术对癫痫遗传学的贡献。
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Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.作为神经发育障碍风险因素的复发性拷贝数变异：临床意义的批判性综述与分析
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Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.对349例癫痫性脑病患者的外显子数据进行拷贝数变异分析。
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