Jia Yu, Lin Yicong, Li Jing, Li Mingyu, Zhang Yifan, Hou Yue, Liu Aihua, Zhang Liping, Li Liping, Xiang Peng, Ye Jing, Huang Zhaoyang, Wang Yuping
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Beijing Key Laboratory of Neuromodulation, Beijing, China.
Front Neurol. 2019 Feb 5;10:64. doi: 10.3389/fneur.2019.00064. eCollection 2019.
Mutations in the Potassium channel subfamily T member 1 () gene have been reported in a range of epileptic encephalopathies. Here we report the case of a 12-year-old male suffering from multiple types of epileptic seizures and cognitive decline from the age of 10. The patient had four types of epileptic seizures, including tonic seizures, atypical absence seizures, myoclonic seizures, and generalized tonic-clonic seizures. The electroencephalogram showed generalized slow spike-and-slow-waves, mutiple-spike-and-slow-waves, as well as short-term fast rhythms bursts. Thus, he was diagnosed with Lennox-Gastaut syndrome. The patient had failed to control seizures after using five first-line antiepileptic drugs. Whole exome sequencing revealed a missense mutation (c.625 C>T). Previous studies revealed that quinidine could block the channel. Therefore, we assumed that quinidine might be effective for him. Add-on treatment with quinidine was started when the patient was 12 years old. After an 8-month treatment, the frequency of seizures and epileptiform discharges were significantly reduced. In conclusion, quinidine therapy may offer a new choice for the treatment of Lennox-Gastaut syndrome with mutations.
钾通道亚家族T成员1（）基因突变已在一系列癫痫性脑病中被报道。在此，我们报告一例12岁男性病例，该患者自10岁起就患有多种类型的癫痫发作并伴有认知功能减退。患者有四种类型的癫痫发作，包括强直发作、非典型失神发作、肌阵挛发作和全身强直阵挛发作。脑电图显示广泛性慢棘慢波、多棘慢波以及短期快速节律暴发。因此，他被诊断为Lennox-Gastaut综合征。该患者在使用五种一线抗癫痫药物后仍未能控制癫痫发作。全外显子测序发现一个错义突变（c.625 C>T）。既往研究表明奎尼丁可阻断通道。因此，我们推测奎尼丁可能对他有效。该患者12岁时开始加用奎尼丁治疗。经过8个月的治疗，癫痫发作频率和癫痫样放电明显减少。总之，奎尼丁治疗可能为伴有突变的Lennox-Gastaut综合征的治疗提供一种新的选择。
