Journal of Clinical Pediatrics ›› 2022, Vol. 40 ›› Issue (3): 177-183.doi: 10.12372/jcp.2022.22e051
• Expert Review • Previous Articles Next Articles
FAN Yuying, LIU Xueyan, WANG Hua
Received:
2022-01-10
Published:
2022-03-15
Online:
2022-03-09
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 |
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