Ren Ying, Hu Wandong, Gao Zaifen, Shi Jianguo, Liu Yong, Zhang Hongwei
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Epilepsy Center, Jinan Children's Hospital, Jinan, China.
Medicine (Baltimore). 2025 Jan 10;104(2):e41236. doi: 10.1097/MD.0000000000041236.
Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE. Herein, we report the cases of 2 children with DEE caused by pathogenic variants in the KCNB1 gene. Trio whole-exome sequencing identified novel KCNB1 genotypes, c. 1160C > A and c.1012C > T, which had not been reported previously, in 2 unrelated patients.
Two children were admitted to our hospital for a detailed evaluation of frequent seizures. And both of these children have abnormal electroencephalogram and brain magnetic resonance imaging results, accompanied by developmental delay.
A genetic study using trio-whole-exome sequencing confirmed the diagnosis of KCNB1-related developmental and epileptic encephalopathy.
Both patients accepted the treatment of antiepileptic drugs. 1 patient had seizure remission with a combination of sodium valproate and lamotrigine, and the other was lost to follow-up.
Trio-whole-exome sequencing technology was used to determine the etiology of the 2 children with DEE.
This study confirmed that genetic testing provides a basis for the diagnosis of children with abnormal electroencephalogram and brain magnetic resonance imaging findings and developmental delay, and provides data supporting a future phenotype-genotype correlation study.
发育性癫痫性脑病（DEE）定义了一组严重且异质性的神经发育障碍。由KCNB1基因编码的电压门控钾通道亚家族2电压门控钾通道α亚基对于神经元兴奋性至关重要。先前的研究表明，KCNB1变异可导致DEE。在此，我们报告2例由KCNB1基因致病性变异引起的DEE患儿病例。三联体全外显子测序在2例无亲缘关系的患者中鉴定出了此前未报道的新型KCNB1基因型，即c.1160C＞A和c.1012C＞T。
两名儿童因频繁癫痫发作入院进行详细评估。这两名儿童的脑电图和脑磁共振成像结果均异常，伴有发育迟缓。
使用三联体全外显子测序进行的基因研究证实了KCNB1相关发育性癫痫性脑病的诊断。
两名患者均接受了抗癫痫药物治疗。1例患者联合使用丙戊酸钠和拉莫三嗪后癫痫发作缓解，另1例失访。
采用三联体全外显子测序技术确定了2例DEE患儿的病因。
本研究证实基因检测为脑电图和脑磁共振成像结果异常及发育迟缓儿童的诊断提供了依据，并为未来的表型-基因型相关性研究提供了数据支持。
