Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.
Pediatr Neurol. 2010 Feb;42(2):137-40. doi: 10.1016/j.pediatrneurol.2009.09.007.
Genetic generalized epilepsy with febrile seizures plus (GEFS+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. The cases described here are of two brothers, one with severe myoclonic epilepsy of infancy (Dravet syndrome) and the other myoclonic-astatic epilepsy. Their father experienced one simple febrile seizure in infancy and two generalized tonic-clonic seizures after head trauma in adulthood, and had generalized epileptiform activity in the electroencephalogram. He died in a severe sport accident before genetic testing could be performed. In both siblings, but not in their healthy mother, DNA analysis identified an unreported point mutation (c.3925 C>T) in exon 20 of the SCN1A gene. The missense mutation was therefore assumed to be inherited from the father, who had a very mild clinical picture, with a single febrile seizure and only occasional generalized tonic-clonic seizures. The offspring have GEFS+ phenotypes with opposite severity, an illustration of the broad intrafamilial variability of SCN1A gene mutations.
热性惊厥附加症（GEFS+）是一种特发性全面性癫痫综合征，具有异质性表型。这里描述的病例是两兄弟，一个患有严重肌阵挛性癫痫（婴儿痉挛症），另一个患有肌阵挛-站立不能性癫痫。他们的父亲在婴儿期经历过一次单纯性热性惊厥，成年后因头部外伤发生过两次全面强直-阵挛性发作，脑电图显示有全面性癫痫样放电。在进行基因检测之前，他在一次严重的运动事故中死亡。在这两个兄弟中，但在他们健康的母亲中，DNA 分析确定了 SCN1A 基因外显子 20 中一个未报道的点突变（c.3925C>T）。因此，假定这种错义突变是从父亲那里遗传来的，他的临床表现非常轻微，只有一次热性惊厥，偶尔发生全面强直-阵挛性发作。这对后代具有相反严重程度的 GEFS+表型，说明了 SCN1A 基因突变在家族内具有广泛的变异性。
