Department of Pediatrics, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea.
Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Brain Dev. 2021 Feb;43(2):244-250. doi: 10.1016/j.braindev.2020.08.015. Epub 2020 Sep 8.
KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response.
Thirteen patients of KCNQ2 encephalopathy were included in the study. Characteristics of KCNQ2 mutations, electroclinical features, clinical course, and response to the treatment were analyzed.
Age range of the thirteen patients was between 3 months and 20.9 years. The onset of seizures in 11 patients ranged from 1 to 3 days of age, while in the other two patients it was 7 and 40 days, respectively. Most common initial seizure types were tonic seizures. Initial EEGs were suppression burst pattern in seven patients and slow and disorganized background with multifocal epileptiform discharges in six patients. Initial epilepsy syndrome was Ohtahara syndrome in seven patients, neonatal focal seizure in five patients, and focal epilepsy beyond neonatal period in one patient. Sodium channel blockers including oxcarbazepine (OXC) (n = 3), lamotrigine (LTG) (n = 3), phenytoin (PHT) (n = 2), topiramate (TPM) (n = 2), and zonisamide (ZNS) (n = 1) were tried and found effective in eleven patients. Ultimately, 12 of 13 patients became seizure-free. However, developmental outcomes were poor.
Sodium channel blockers are effective in seizure control in these patients with KCNQ2 encephalopathy. Early recognition of KCNQ2 encephalopathy and early use of sodium channel blockers might be helpful in seizure control.
KCNQ2 突变与良性家族性新生儿癫痫（BFNE）或发育性癫痫性脑病（DEE）有关。本研究旨在描述 KCNQ2 脑病的表型，并评估其治疗反应。
本研究纳入了 13 例 KCNQ2 脑病患者。分析了 KCNQ2 突变特征、电临床特征、临床病程以及对治疗的反应。
13 例患者的年龄范围为 3 个月至 20.9 岁。11 例患者的癫痫发作起始年龄为 1 至 3 天，另外 2 例患者分别为 7 天和 40 天。最常见的初始癫痫发作类型为强直发作。7 例患者的初始脑电图为抑制爆发模式，6 例患者的初始脑电图为慢而杂乱的背景伴多灶性癫痫样放电。7 例患者的初始癫痫综合征为大田原综合征，5 例患者为新生儿局灶性癫痫，1 例患者为新生儿期后局灶性癫痫。11 例患者尝试了钠通道阻滞剂，包括奥卡西平（OXC）（n=3）、拉莫三嗪（LTG）（n=3）、苯妥英（PHT）（n=2）、托吡酯（TPM）（n=2）和左乙拉西坦（ZNS）（n=1），其中 11 例患者有效。最终，13 例患者中的 12 例癫痫发作得到控制。然而，发育结局较差。
在这些 KCNQ2 脑病患者中，钠通道阻滞剂对控制癫痫发作有效。早期识别 KCNQ2 脑病并早期使用钠通道阻滞剂可能有助于控制癫痫发作。
