PDF(Pubmed)
Abstract：
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 RELN gene, successfully treated with radiofrequency thermocoagulation, resulting in a favorable outcome.
摘要：
已经发现越来越多的与癫痫相关的基因突变，一些与灰质异位症有关-这是耐药性癫痫的常见原因。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症。目前,立体脑电图引导的射频热凝术是治疗脑室周围结节性异位症相关耐药性癫痫的重要方法。我们提出了一个耐药癫痫的病例,伴有脑室周围结节性异位症和RELN基因的杂合突变，成功用射频热凝治疗，导致有利的结果。
