中国遗传性癫痫的诊治和临床咨询专家共识
Consensus on diagnosis and treatment and clinical counseling for patients with genetic epilepsy in China
摘要癫痫是中枢神经系统常见的慢性疾病,遗传因素是导致癫痫发作的主要病因之一,随着基因检测技术的发展,越来越多的癫痫相关致病基因被克隆。本共识参考了国内外遗传性癫痫的基础和临床研究的最新进展,结合中国人群实际情况,对不同类型遗传性癫痫的表型、诊断、治疗和临床咨询进行了总结,期望有助于遗传性癫痫患者的临床规范化管理。
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abstractsEpilepsy is a common chronic neurological disorder of the central nervous system, and genetic factor is one of the leading causes of seizures. With the development of genetic testing technology, more and more pathogenic genes related with epilepsy have been cloned. The consensus refers to the latest progress of basic and clinical research of genetic epilepsy at home and abroad combined with the actual situation of the Chinese population, and summarizes the phenotype, diagnosis, treatment and clinical counseling, of various types of genetic epilepsy with an aim to standardize the clinical management of genetic epilepsy patients.
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