Hanaya Ryosuke, Niantiarno Fajar H, Kashida Yumi, Hosoyama Hiroshi, Maruyama Shinsuke, Otsubo Toshiaki, Tanaka Kazumi, Ishii Atsushi, Hirose Shinichi, Arita Kazunori
Department of Neurosurgery, Graduate School of Medical and Dental Science, Kagoshima University, Kagoshima, Japan.
Department of Neurosurgery, Medical Faculty of Diponegoro University, Semarang, Indonesia.
Epilepsy Behav Case Rep. 2016 Nov 9;7:16-19. doi: 10.1016/j.ebcr.2016.11.001. eCollection 2017.
Genetic epilepsy with febrile seizures plus (GEFS) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Considerably less common are focal epilepsies including complex partial seizures. We report vagus nerve stimulation (VNS) in a 6-year-old girl with GEFS who exhibited refractory generalized tonic-clonic seizures and complex partial seizures.
伴有热性惊厥附加症的遗传性癫痫（GEFS）的特征是儿童期起病的癫痫综合征。它包括热性惊厥以及在同一家系中具有常染色体显性遗传特征的多种无热癫痫发作类型。大约10%的GEFS患者携带SCN1A，这是电压门控钠通道亚基之一的基因突变。局灶性癫痫包括复杂部分性发作则相当少见。我们报告了1例6岁患有GEFS的女孩，她表现为难治性全身强直阵挛发作和复杂部分性发作，接受了迷走神经刺激（VNS）治疗。
