Institute of Life Sciences, College of Medicine, Swansea University, UK.
J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):336-8. doi: 10.1136/jnnp-2011-300405. Epub 2011 Dec 6.
Generalised epilepsy with febrile seizures plus (GEFS+) is the most studied familial epilepsy syndrome. However, characteristics of UK families have not previously been reported. Among the first 80 families recruited to our families study, four broad subphenotypes were identified: families with classical GEFS+; families with borderline GEFS+; families with unclassified epilepsy; and families with an alternative syndromal diagnosis. Borderline GEFS+ families shared many characteristics of classical GEFS+ families-such as prominent febrile seizures plus and early onset febrile seizures-but included more adults with focal epilepsies (rather than the idiopathic generalised epilepsies predominating in GEFS+) and double the prevalence of migraine. Thus the authors believe that a novel and robust familial epilepsy phenotype has been identified. Subcategorising families with epilepsy is helpful in targeting both clinical and research resources. Most families with GEFS+ have no identified causal mutation, and so predicting genetic homogeneity by identifying endophenotypes becomes more important.
热性惊厥附加全身性发作（GEFS+）是研究最多的家族性癫痫综合征。然而，英国家族的特征以前尚未报道过。在我们的家族研究中招募的前 80 个家族中，确定了四个广泛的亚表型：具有经典 GEFS+的家族；具有边缘性 GEFS+的家族；具有未分类癫痫的家族；以及具有替代综合征诊断的家族。边缘性 GEFS+家族与经典 GEFS+家族有许多共同特征-例如突出的热性惊厥附加和早发性热性惊厥-但包括更多的成年人患有局灶性癫痫（而不是 GEFS+中占主导地位的特发性全身性癫痫）和偏头痛的患病率增加了一倍。因此，作者认为已经确定了一种新颖而强大的家族性癫痫表型。对癫痫家族进行亚分类有助于针对临床和研究资源。大多数 GEFS+家族没有发现明确的致病突变，因此通过识别内表型来预测遗传同质性变得更加重要。
