遗传知识系列：伴有热性惊厥附加症的遗传性癫痫
Genetic literacy series: genetic epilepsy with febrile seizures plus.
作者信息
Myers Kenneth A, Scheffer Ingrid E, Berkovic Samuel F
机构信息
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria.
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.
出版信息
Epileptic Disord. 2018 Aug 1;20(4):232-238. doi: 10.1684/epd.2018.0985.
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good outcome to severe epileptic encephalopathies. Here, we review the spectrum of epilepsy phenotypes, the genetic architecture of GEFS+, and the implicated genes. Using an illustrative clinical case study, we describe important steps in managing patients with GEFS+: making the diagnosis of GEFS+, appropriate genetic testing, and counselling.
伴有热性惊厥附加症的遗传性癫痫（GEFS+）是一种家族性癫痫综合征，其中家族内受影响的个体通常具有多种癫痫表型，从简单热性惊厥和预后良好的热性惊厥附加症到严重的癫痫性脑病不等。在此，我们综述癫痫表型谱、GEFS+的遗传结构以及相关基因。通过一个具有说明性的临床病例研究，我们描述了管理GEFS+患者的重要步骤：做出GEFS+的诊断、进行适当的基因检测以及提供咨询。
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