Epilepsy-associated genes

被引：320
作者：
Wang, Jie [1 ,2 ,3 ,4 ]
Lin, Zhi-Jian [1 ,2 ,3 ,4 ]
Liu, Liu [1 ,2 ,3 ,4 ]
Xu, Hai-Qing [1 ,2 ,3 ,4 ,5 ]
Shi, Yi-Wu [1 ,2 ,3 ,4 ]
Yi, Yong-Hong [1 ,2 ,3 ,4 ]
He, Na [1 ,2 ,3 ,4 ]
Liao, Wei-Ping [1 ,2 ,3 ,4 ]
机构：
[1] Guangzhou Med Univ, Inst Neurosci, Chang Gang Dong Rd 250, Guangzhou 510260, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Affiliated Hosp 2, Chang Gang Dong Rd 250, Guangzhou 510260, Guangdong, Peoples R China
[3] Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China
[4] Minist Educ China, Guangzhou, Guangdong, Peoples R China
[5] Southeast Univ, Sch Med, Affiliated Zhongda Hosp, Dept Neurol, Nanjing, Jiangsu, Peoples R China
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2017年 / 44卷
基金：
中国国家自然科学基金;
关键词：
FRONTAL-LOBE EPILEPSY; SEVERE MYOCLONIC EPILEPSY; NEURONAL SODIUM-CHANNEL; DE-NOVO MUTATIONS; FEBRILE SEIZURES; MISSENSE MUTATIONS; DRAVET SYNDROME; SUBUNIT; SCN1A; INFANCY;
D O I：
10.1016/j.seizure.2016.11.030
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Development in genetic technology has led to the identification of an increasing number of genes associated with epilepsy. These discoveries will both provide the basis for including genetic tests in clinical practice and improve diagnosis and treatment of epilepsy. By searching through several databases (OMIM, HGMD, and EpilepsyGene) and recent publications on PubMed, we found 977 genes that are associated with epilepsy. We classified these genes into 4 categories according to the manifestation of epilepsy in phenotypes. We found 84 genes that are considered as epilepsy genes: genes that cause epilepsies or syndromes with epilepsy as the core symptom. 73 genes were listed as neurodevelopment-associated genes: genes associated with both brain-development malformations and epilepsy. Several genes (536) were epilepsy-related: genes associated with both physical or other systemic abnormalities and epilepsy or seizures. We found 284 additional genes putatively associated with epilepsy; this requires further verification. These integrated data will provide new insights useful for both including genetic tests in the clinical practice and evaluating the results of genetic tests. We also summarized the epilepsy-associated genes according to their function, with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms underlying epilepsy. (C) 2016 Published by Elsevier Ltd on behalf of British Epilepsy Association.
引用
收藏
页码：11 / 20
页数：10
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