Li Zijian, Wang Fuli, He Zhidong, Guo Qi, Zhang Jinnan, Liu Songyan
Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China.
Department of Neurosurgery, China-Japan Union Hospital of Jilin University, Changchun, China.
Front Neurol. 2024 Mar 27;15:1366776. doi: 10.3389/fneur.2024.1366776. eCollection 2024.
An increasing number of gene mutations associated with epilepsy have been identified, some linked to gray matter heterotopia-a common cause of drug-resistant epilepsy. Current research suggests that gene mutation-associated epilepsy should not be considered a contraindication for surgery in epilepsy patients. At present, stereoelectroencephalography-guided radiofrequency thermocoagulation is an important method to treat periventricular nodular heterotopia-associated drug-resistant epilepsy. We present a case of drug-resistant epilepsy, accompanied by periventricular nodular heterotopia and a heterozygous mutation of the gene, successfully treated with radiofrequency thermocoagulation, resulting in a favorable outcome.
越来越多与癫痫相关的基因突变已被识别出来，其中一些与灰质异位症有关——灰质异位症是药物难治性癫痫的常见病因。目前的研究表明，基因突变相关的癫痫不应被视为癫痫患者手术的禁忌证。目前，立体定向脑电图引导下的射频热凝术是治疗室管膜下结节性异位症相关药物难治性癫痫的重要方法。我们报告一例药物难治性癫痫患者，伴有室管膜下结节性异位症和该基因的杂合突变，通过射频热凝术成功治疗，取得了良好的效果。
