首页|KCNQ2基因相关癫痫谱系疾病临床特征与遗传学分析

KCNQ2基因相关癫痫谱系疾病临床特征与遗传学分析

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目的 分析KCNQ2基因突变所致癫痫患儿基因变异位置及类型与不同严重程度临床表型的关系,为相关患儿的精准治疗、用药疗程及预后评估提供帮助.方法 收集2021年10月至2024年3月在山西省儿童医院门诊及住院收治的已明确为KCNQ2基因突变患儿的临床资料及基因信息,回顾性分析其基因型及临床特征.结果 14例KCNQ2基因突变所致癫痫患儿中,包括12例单核苷酸变异和2例拷贝数变异;7例为新生变异,7例为遗传性变异;12例单核苷酸变异患儿中,5例为新报道的变异;14例患儿中,首次发作年龄为1 d至6月,最常见的发作形式是局灶性发作,8例患儿存在脑电图异常,5例患儿头颅磁共振结果存在异常;12例患儿使用钠通道阻滞剂癫痫发作得到有效控制.结论 本研究发现5例单核苷酸新变异,扩大了 KCNQ2基因相关癫痫的基因谱.钠通道阻滞剂可有效控制KCNQ2基因变异所致癫痫发作,通过分析KCNQ2基因变异与临床表型的关系,可为患儿早期治疗选择及预后评估提供帮助.
Clinical characteristics and genetic analysis of KCNQ2 gene mutation associated with a spectrum of epilepsy
Objective To analyze the relationship between the location and type of KCNQ2 gene variants and different clinical pheno-types in children with epilepsy due to KCNQ2 gene mutations,and provide help for the precise treatment,the medication regimen,and the prognostic evaluation of children.Methods Clinical data and genetic information of children who were admitted as outpatients and inpatients to Shanxi Children's Hospital from October 2021 to March 2024 and identified as KCNQ2 gene mutations were collected to retrospectively analyze their genotypes and clinical characteristics.Results Of 14 children with epilepsy due to KCNQ2 gene mutation,12 had single nucleotide variants(SNVs)and two had copy number variants.Seven patients had inherited variants,and seven patients had de novo variants.Of the 12 children with SNVs,five were newly reported variants.Among the 14 cases,the age of the first seizure ranged from 1 d to 6 months.Focal seizure was the most common form of seizure.Eight cases had abnormal EEG and five cases had abnormal brain MRI.The seizures of 12 SNV children were effectively controlled by sodium channel blockers.Conclusion Five new single nucleotide variants are reported in this study,expanding the genetic spectrum of KCNQ2 gene-associated epilepsy.Sodium channel blockers are effective in seizure control for these patients with KCNQ2 gene mutation.Analyzing the relationship between KCNQ2 gene mutation and clinical phenotype can provide help for the early treatment selection and the prognosis evaluation of children.

self-limited(familial)epilepsyKCNQ2-related developmental and epileptic encephalopathy(KCNQ2-DEE)KCNQ2 genesingle nucleotide variantsnewborn

赵娇娇、武运红、韩虹、纪惠茹、赵晶晶

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山西医科大学儿科医学系,太原 030001

山西省儿童医院神经内科

山西医科大学医学影像学院

自限性(家族性)癫痫 KCNQ2发育性癫痫性脑病 KCNQ2基因 单核苷酸变异 新生儿

2024

山西医科大学学报
山西医科大学

山西医科大学学报

CSTPCD
影响因子:0.931
ISSN:1007-6611
年,卷(期):2024.55(6)