Abstract：
PCDH19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. Traditionally, patients with PCDH19-related epilepsy have not been considered surgical candidates. This retrospective review evaluated three patients with pathogenic variants in PCDH19 who presented with seizures in childhood, had one seizure semiology, became medication resistant, and had concordant imaging, seizure semiology and electrographic findings. All three patients ultimately underwent temporal lobectomy, resulting in seizure freedom. These findings suggest epilepsy surgery can be an effective treatment option for select patients with PCDH19-related epilepsy and a single seizure semiology.
摘要：
PCDH19是一种常见的癫痫基因，可引起药物抵抗性癫痫并伴有发烧相关的癫痫发作。传统上,PCDH19相关癫痫患者尚未被视为手术候选人.这项回顾性审查评估了3例PCDH19致病变异的患者，这些患者在儿童期出现癫痫发作。有一次癫痫发作符号学，变得耐药，有一致的成像，癫痫发作符号学和电图发现。所有三名患者最终都接受了颞叶切除术，导致癫痫的自由。这些发现表明，对于某些PCDH19相关癫痫和单一癫痫发作的患者，癫痫手术可能是一种有效的治疗选择。
