儿童良性癫痫伴中央颞区棘波的诊治

doi:10.12372/jcp.2022.22e051

摘要/Abstract

摘要：

儿童良性癫痫伴中央颞区棘波(BECTS)是儿童期最常见的局灶性癫痫综合征。BECTS的发病涉及复杂多基因与环境因素相互作用,呈多因素遗传模式。BECTS病程中可演变为BECTS变异型,二者均可合并睡眠期癫痫性电持续状态(ESES)。BECTS的治疗需要考虑多种因素,进行个体化风险效益评估,以确定最佳治疗方案。应重视早期识别诊断BECTS患儿共患认知功能损害。注意缺陷多动障碍 (ADHD) 是BECTS儿童最常见的心理行为共患病。BECTS共患ADHD应尽早开始正规治疗。BECTS的临床诊疗依然存在困惑和挑战,文章介绍近年来该病诊治的相关研究进展,旨在为BECTS的临床诊疗提供参考,以提高患儿生活质量。

关键词: 儿童良性癫痫伴中央颞区棘波, 诊断, 治疗, 共患病

Abstract:

Benign epilepsy of childhood with centrotemporal spikes (BECT) is the commonest focal epilepsy syndrome in children. The pathogenesis of BECTS involves the interaction of complex polygenes and environmental factors, presenting a pattern of multifactorial inheritance. BECTS can evolve into atypical BECTS, both of which can be combined with electrical status epilepticus during slow wave sleep (ESES). The treatment of BECTS requires consideration of multiple factors and individualized risk-benefit assessment to determine the best treatment regimen. Early recognition and diagnosis of BECTS comorbid cognitive impairment should be emphasized. Attention deficit hyperactivity disorder (ADHD) is the commonest childhood psychobehavioral comorbidity of BECTS. Formal treatment of BECTS comorbid ADHD should be initiated as soon as possible. There are still many problems and challenges in the clinical diagnosis and treatment of BECTS. This article will review the recent progress in the diagnosis and treatment of BECTS, aiming to provide reference for the clinical diagnosis and treatment of BECTS and improve the life quality of children with BECTS.

Key words: benign epilepsy of childhood with centrotemporal spikes, diagnosis, treatment, comorbidity

范玉颖, 刘雪雁, 王华. 儿童良性癫痫伴中央颞区棘波的诊治[J]. 临床儿科杂志, 2022, 40(3): 177-183.

FAN Yuying, LIU Xueyan, WANG Hua. Update on the progress in diagnosis and treatment of benign epilepsy of childhood with centrotemporal spikes[J]. Journal of Clinical Pediatrics, 2022, 40(3): 177-183.

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基因	定位	可能的致病机制
ELP4	11p13	上调PAX6的表达,导致神经发育障碍,增加癫痫易感性
GRIN2A	16p13.2	NMDAR调节亚基a2(NR2A)功能异常,影响突触信号转导,神经元兴奋性增加,导致癫痫发生;可能影响认知功能和精神行为
GABRG2	5q34	配体门控的氯离子通道蛋白表达异常,减少GABA诱发的相关电流活动,影响大脑中最快速的抑制性突触传递
KCNQ2	20q13.33	神经元M电流的电压门控钾通道Q亚家族2表达异常,影响放电频率
KCNQ3	8q24.22	神经元M电流的电压门控钾通道Q亚家族3表达异常,影响放电频率
BDNF	11p14.1	BDNF作为神经生长因子家族中的一员,其细胞效应作用于齿状回,BDNF表达异常,影响周期性癫痫发作
DEPDC5	22q12.2-q12.3	调控神经元雷帕霉素靶蛋白（mTORC1）信号通路异常,影响大脑皮质发育,与癫痫发作相关
RBFOX1	16p13.3	编码RNA黏附蛋白异常,作为神经特异性剪接因子,参与癫痫候选基因如SCL1A3和KCNQ2的调节异常
RBFOX3	17q25.3	同“RBFOX1”
KALRN	3q21.1-q21.2	影响肌动蛋白细胞骨架,进而影响神经元的形态、生长和可塑性
CHRNA5	15q25.1	编码烟碱型乙酰胆碱受体亚基,影响受体对乙酰胆碱的敏感性
CHRNA4	20q13.33	编码烟碱型乙酰胆碱受体亚基,可导致受体释放的Ca²⁺异常,使得突触前释放的GABA减少
ADGRV1	5q14.3	影响发育中的中枢神经系统G蛋白偶联受体1的表达,导致神经元细胞内钙稳态缺陷
GRIN2B	12p13.1	编码NMDAR亚单位NR2B异常,影响神经元细胞内钙稳态
RyR2	1q43	编码钙离子通道蛋白异常,影响神经元细胞内钙稳态