AIM To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developmental delay since early infancy. Daily seizures of versive posturing and ocular deviation were transiently controlled by carbamazepine and valproate at the age of 1 year; however, the seizures gradually increased to up to 50 times per day. Ictal EEG and positron emission tomography revealed an epileptic focus in the left frontal lobe at age 5 years. Total callosotomy resulted in marked reduction of epileptic seizures thereafter, as well as improved responses to external auditory and visual stimuli. Whole exome sequencing at age 9 identified a de novo missense variant in KCNQ2 (NM_172107.3:c.563A > C:p.(Gln188Pro)). CONCLUSION This case supports that epilepsy surgery could benefit children with epileptic encephalopathy, even with the etiology of channelopathy.

中文翻译：

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全胼胝体切开术对KCNQ2相关难治性癫痫的影响

目的 描述胼胝体切开术对 KCNQ2 相关难治性癫痫的有益作用。病例报告 我们的患者是一名 10 岁女孩，她在新生儿期出现癫痫，并伴有脑电图 (EEG) 上的抑制爆发模式。患者从婴儿早期就表现出严重的精神运动发育迟缓。在 1 岁时，卡马西平和丙戊酸盐可暂时控制每天发作的侧翻姿势和眼球偏斜；然而，癫痫发作逐渐增加到每天 50 次。发作期脑电图和正电子发射断层扫描显示 5 岁时左额叶有癫痫病灶。全胼胝体切开术后癫痫发作明显减少，对外部听觉和视觉刺激的反应也得到改善。9 岁时的全外显子组测序在 KCNQ2 中发现了一个从头错义变异（NM_172107.3:c.563A > C:p.(Gln188Pro)）。结论 本病例支持癫痫手术可以使患有癫痫性脑病的儿童受益，即使其病因是离子通道病。