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Brunklaus, A., Ellis, R., Stewart, H., et al. (2015) Homozygous Mutations in the SCN1A Gene Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome in 2 Families. European Journal of Paediatric Neurology, 19, 484-488.
http://dx.doi.org/10.1016/j.ejpn.2015.02.001

被以下文章引用:

  • 标题: 热惊及热惊附加症相关基因的研究进展Gene Research Progress of Febrile Seizures and Febrile Seizure Plus

    作者: 王罗俊, 邓艳春

    关键字: 热性惊厥, 热性惊厥附加症, 基因研究Febrile seizure, Febrile Seizure Plus, Gene Research

    期刊名称: 《International Journal of Psychiatry and Neurology》, Vol.5 No.1, 2016-02-24

    摘要: 热性惊厥(febrile seizures FS)是一种儿童时期的常见病。它是指发生在婴幼儿时期伴随有发热的惊厥发作,并排除既往曾有无热惊厥史患儿、中枢神经系统感染患儿等。热性惊厥附加症(febrile seizure plus FS+)是一个新提出的热性惊厥类型,国际抗癫痫联盟(International League Against Epilepsy ILAE)已经把热性惊厥附加症作为一种癫痫综合征收录。近年来随着精准医疗理念的提出,疾病的基因研究变得更加重要,此文就以上两种疾病相关基因的研究进展进行简单的综述。 Febrile seizures (FS) is a common disease in childhood. It’s defined as seizures in association with a febrile illness, occurring in children older than 1 month and without prior afebrile seizures or in the absence of a central nervous system infection. Febrile Seizure Plus (FS+) is a new type syndrome of Febrile seizures. The International League against Epilepsy ILAE regard it as a kind of epilepsy syndrome. Recently, gene research plays a important role with the Precision Medical appearing. So we conclude the relevant gene research of FS and FS+.

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