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Omics-based Precision Medicine of Epilepsy

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研究单位: [1]Fudan University [2]Children's Hospital of Fudan University,Shanghai, Shanghai, China, 201102 [3]Huashan Hospital [4]Peking University First Hospital [5]Peking University People's Hospital [6]Xiangya Hospital of Central South University [7]First Affiliated Hospital of Chongqing Medical University [8]Children's Hospital of Chongqing Medical University [9]Xuanwu Hospital, Beijing [10]Capital Medical University [11]Second Affiliated Hospital of Guangzhou Medical University

关键词: phenotype genotype

研究目的:
Epilepsy is a major disease of the nervous system (WHO, 2015), as well as the second most common neural disease. It has been recorded that there have been 65 million epilepsy patients all over the world, more than 10 million in China, resulted in high morbidity, high mortality, heavy social and social psychological burden. Due to complex etiology, which genetic playing a large part for 70%-80%, easy to recurrent, as well as various seizure types, a great heterogeneity in clinical manifestation, epilepsy is difficult to treat in general, at least 33% patients. At present, It's still a big challenge in early warning, choice of treatment, efficacy and severe adverse reaction rate, prognosis assessment. Lack of precise diagnosis based genetic and molecular bio-markers for treatment are the main key points. Recently, clinical phenotype classifications of epilepsy have been refined, the exist researches had made a progress in gene mutation mechanism and targeted therapy, which pushed epilepsy being another disease could be precise treated after tumor. It's sure to provide a breakthrough for another neural diseases if epilepsy precise treatment project are successful.

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