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
Online:
2022-03-15
Published:
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.
"
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 |
[1] |
Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology[J]. Epilepsia, 2017, 58(4): 512-521.
doi: 10.1111/epi.13709 pmid: 28276062 |
[2] | 刘晓燕. 临床脑电图学[M]. 2 版. 北京: 人民卫生出版社, 2017: 335. |
[3] |
Dryzalowski P, Jozwiak S, Franckiewicz M, et al. Benign epilepsy with centrotemporal spikes - current concepts of diagnosis and treatment[J]. Neurol Neurochir Pol, 2018, 52(6): 677-689.
doi: 10.1016/j.pjnns.2018.08.010 |
[4] |
Wickens S, Bowden SC, D'Souza W. Cognitive functioning in children with self-limited epilepsy with centrotemporal spikes: A systematic review and meta-analysis[J]. Epilepsia, 2017, 58(10): 1673-1685.
doi: 10.1111/epi.13865 pmid: 28801973 |
[5] |
Ramos-Lizana J, Martínez-Espinosa G, Aguilera-López P, et al. Probability of remission of the main epileptic syndromes in childhood[J]. J Child Neurol, 2022, 37(1): 89-97.
doi: 10.1177/08830738211056780 |
[6] |
Xiong W, Zhou D. Progress in unraveling the genetic etiology of rolandic epilepsy[J]. Seizure, 2017, 47: 99-104.
doi: 10.1016/j.seizure.2017.02.012 |
[7] | Chen J, Zheng G, Guo H, et al. Epileptic negative myoclonus as the first and only symptom in a challenging diagnosis of benign epilepsy with centrotemporal spikes[J]. Child Neurol Open, 2017, 4: 1-6. |
[8] |
Yang L, Su Q, Xu N, et al. Continuous epileptic negative myoclonus as the first seizure type in atypical benign epilepsy with centrotemporal spikes[J]. Medicine (Baltimore), 2020, 99(44): e22965.
doi: 10.1097/MD.0000000000022965 |
[9] |
Gong P, Xue J, Qian P, et al. Epileptic negative myoclonus restricted to lower limbs in benign childhood focal epilepsy with vertex spikes[J]. Eur J Neurol, 2019, 26(10): 1318-1326.
doi: 10.1111/ene.13982 pmid: 31077506 |
[10] | 龚潘, 薛姣, 钱萍, 等. 以对应于中线放电的癫痫性负性肌阵挛起病的儿童癫痫电临床特点[J]. 中华儿科杂志, 2019, 57(12): 943-949. |
[11] | 张静, 张月华, 刘晓燕, 等. 癫痫的ILAE分类:ILAE 委员会关于分类和术语的意见书[J]. 癫痫杂志, 2018, 4(6): 517-524. |
[12] | 段亦然, 高瑜, 李铭, 等. 特发性伴中央颞区棘波的癫痫谱系疾病的遗传学研究进展[J]. 中华神经科杂志, 2019, 52(1): 55-61. |
[13] |
Shi XY, Wang G, Li T, et al. Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population[J]. EBioMedicine, 2020, 57: 102840.
doi: 10.1016/j.ebiom.2020.102840 |
[14] | Neng X, Xiao M, Yuanlu C, et al. Novel variant in CHRNA4 with benign childhood epilepsy with centro-temporal spikes and contribution to precise medicine[J]. Mol Genet Genomic Med, 2020, 8(7): e1264. |
[15] |
Duan Y, Leng X, Liu C, et al. The correlation of ELP4-PAX6 with Rolandic spike sources in idiopathic Rolandic epilepsy syndromes[J]. Front Neurol, 2021, 12: 643964.
doi: 10.3389/fneur.2021.643964 |
[16] |
Ma MG, Liu XR, Wu Y, et al. RYR2 mutations are associated with benign epilepsy of childhood with centrotemporal spikes with or without arrhythmia[J]. Front Neurosci, 2021, 15: 629610.
doi: 10.3389/fnins.2021.629610 |
[17] |
Liu Z, Ye X, Zhang J, et al. Biallelic ADGRV1 variants are associated with Rolandic epilepsy[J]. Neurol Sci, 2022, 43(2): 1365-1374.
doi: 10.1007/s10072-021-05403-y |
[18] |
Mohandas N, Loke YJ, Mackenzie L, et al. Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes[J]. Epilepsy Res, 2019, 156: 106163.
doi: S0920-1211(19)30214-1 pmid: 31310899 |
[19] |
Devarbhavi H. Rolandic epilepsy as a heralding mani-festation of Wilson disease in a 6-year-old girl[J]. J Clin Exp Hepatol, 2020, 10(6): 633-635.
doi: 10.1016/j.jceh.2020.04.007 |
[20] |
Liu MJ, Su XJ, Md XS, et al. Clinical features of benign epilepsy of childhood with centrotemporal spikes in Chinese children[J]. Medicine (Baltimore), 2017, 96(4): e5623.
doi: 10.1097/MD.0000000000005623 |
[21] | An O, Nagae LM, Winesett SP. A self-limited childhood epilepsy as co-incidental in cerebral palsy[J]. Int Med Case Rep J, 2021, 14: 509-517. |
[22] |
Gu W, Chen J, Tian W, et al. Outcome analysis of children with rolandic discharges on EEG: A real-world study[J]. Seizure, 2020, 82: 105-108.
doi: 10.1016/j.seizure.2020.09.012 |
[23] | Klinzing JG, Tashiro L, Ruf S, et al. Auditory stimulation during sleep suppresses spike activity in benign epilepsy with centrotemporal spikes[J]. Cell Rep Med, 2021, 2(11): 100432. |
[24] | Timofeev I. Just a sound: a non-pharmacological treatment approach in epilepsy[J]. Cell Rep Med, 2021, 2(11): 100451. |
[25] |
Zhang K, Yan Y, Su T. Treatment strategies for encephalopathy related to status epilepticus during slow sleep, a narrative review of the literature[J]. Rev Neurosci, 2020, 31(7): 793-802.
doi: 10.1515/revneuro-2020-0020 |
[26] |
Zanaboni MP, Varesio C, Pasca L, et al. Systematic review of executive functions in children with self-limited epilepsy with centrotemporal spikes[J]. Epilepsy Behav, 2021, 123: 108254.
doi: 10.1016/j.yebeh.2021.108254 pmid: 34428616 |
[27] |
Ramos IDSS, Coelho CVG, Ribeiro F, et al. Executive functioning in children with self-limited epilepsy with centrotemporal spikes: a systematic review and meta-analysis[J]. Child Neuropsychol, 2022, 28(1): 30-60.
doi: 10.1080/09297049.2021.1945019 |
[28] | Wu L, Yang X, Zhang K, et al. Impairment of eye emotion discrimination in benign childhood epilepsy with centrotemporal spikes: A neuropsychological study[J]. Brain Behav, 2021, 11(6): e02154. |
[29] |
Kirby A, Williams N, Koelewijn L, et al. Benign childhood epilepsy with centrotemporal spikes (BECTS) and developmental co-ordination disorder[J]. Epilepsy Behav, 2017, 72: 122-126.
doi: 10.1016/j.yebeh.2017.04.014 |
[30] | Varesio C, Zanaboni MP, Salmin EC, et al. Childhood epilepsy with centrotemporal spikes: clinical and neuropsychological outcomes 5 years after remission[J]. Diagnostics (Basel), 2020, 10(11): 931. |
[31] | 张珺, 孙伟. 儿童良性癫痫伴中央颞区棘波患者的认知损害研究[J]. 癫痫杂志, 2020, 6(2): 93-97. |
[32] |
Zhang J, Yang H, Wu D, et al. Electroencephalographic abnormalities are correlated with cognitive deficits in children with benign childhood epilepsy with centrotemporal spikes: a clinical study of 61 cases[J]. Epilepsy Behav, 2020, 106: 107012.
doi: S1525-5050(20)30191-8 pmid: 32179505 |
[33] |
Özgen Y, Güngör M, Kutlu M, et al. Clinical and electrophysiological predictors of behavioral disorders in patients with benign childhood epilepsy with centrotemporal spikes[J]. Epilepsy Behav, 2021, 121(Pt A): 108037.
doi: 10.1016/j.yebeh.2021.108037 |
[34] |
Wang P, Li Y, Sun Y, et al. Altered functional connectivity in newly diagnosed benign epilepsy with unilateral or bilateral centrotemporal spikes: a multi-frequency MEG study[J]. Epilepsy Behav, 2021, 124: 108276.
doi: 10.1016/j.yebeh.2021.108276 |
[35] |
Dai XJ, Liu H, Yang Y, et al. Brain network excitatory/inhibitory imbalance is a biomarker for drug-naive Rolandic epilepsy: a radiomics strategy[J]. Epilepsia, 2021, 62(10): 2426-2438.
doi: 10.1111/epi.v62.10 |
[36] |
Huang C, Hu W, Tan G, et al. Clinical and electro-encephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China[J]. Epilepsy Behav, 2020, 111: 107240.
doi: S1525-5050(20)30419-4 pmid: 32603807 |
[37] | 韩颖, 张月华, 肖农, 等. 儿童癫痫共患注意缺陷多动障碍诊断治疗的中国专家共识[J]. 癫痫杂志, 2018, 4(4): 281-289. |
[38] |
Doumlele K, Friedman D, Buchhalter J, et al. Sudden unexpected death in epilepsy among patients with benign childhood epilepsy with centrotemporal spikes[J]. JAMA Neurol, 2017, 74(6): 645-649.
doi: 10.1001/jamaneurol.2016.6126 pmid: 28384699 |
[1] | ZHANG Weihua, ZOU Liping, REN Haitao, GUAN Hongzhi. Beware of the pitfalls in diagnosis and treatment of autoimmune encephalitis in children [J]. Journal of Clinical Pediatrics, 2023, 41(9): 644-649. |
[2] | YANG Yating, CAI Yuehao, FANG Qiong, CHEN Lang, CHEN Qiaobin, LIN Zhi, WU Feifei, LIN Meng. Clinical analysis of idiopathic and symptomatic occipital lobe epilepsy in children [J]. Journal of Clinical Pediatrics, 2023, 41(9): 668-673. |
[3] | SUN Juan, LI Haiying, JIA Peisheng, WANG Huaili. Clinical analysis of fulminant myocarditis in 12 children [J]. Journal of Clinical Pediatrics, 2023, 41(9): 692-696. |
[4] | YU Hui. Resistance mechanism and treatment of carbapenem resistant Pseudomonas aeruginosa [J]. Journal of Clinical Pediatrics, 2023, 41(8): 561-565. |
[5] | SHEN Nan, DU Bailu. Strategies for the diagnosis, treatment, and management of invasive fungal infections in children with hematologic neoplasms [J]. Journal of Clinical Pediatrics, 2023, 41(8): 571-577. |
[6] | ZHANG Wenyan, YAO Ziming, ZHANG Xuejun, ZHANG Yaodong, WANG Lingfei, HU Xuyun, HAO Chanjuan. Genetic characteristics of TRPV4-related congenital skeletal disorder [J]. Journal of Clinical Pediatrics, 2023, 41(7): 530-536. |
[7] | ZHANG Yinchun, MO Wenhui, BAI Bo, CHEN Jinmian, SHI Congcong, GU Xia, XIAO Xin, HAO Hu. Genetic screening and early intervention in neonatal hyperammonemia caused by urea cycle disorder [J]. Journal of Clinical Pediatrics, 2023, 41(4): 259-265. |
[8] | XI Bixin, HU Qun, ZHAO Xin, LIU Aiguo. Research advances of the diagnosis and management for mucormycosis following hematopoietic stem cell transplant in children [J]. Journal of Clinical Pediatrics, 2023, 41(4): 311-315. |
[9] | WU Xiaoyan, ZHANG Wenzhi, PENG Yun. Relationship between intestinal microbiota and graft-versus-host disease in allogeneic stem cell transplantation and its perspectives [J]. Journal of Clinical Pediatrics, 2023, 41(3): 161-166. |
[10] | XUE Yujuan, LU Aidong, WANG Yu, JIA Yueping, ZUO Yingxi, ZHANG Leping. Clinical analysis of treatment failure in children with acute lymphoblastic leukemia [J]. Journal of Clinical Pediatrics, 2023, 41(3): 204-209. |
[11] | DING Xiaoyuan, ZHANG Yue, ZHANG Lishan, ZHANG Lei, YU Xiaodan. A cross-sectional study of hyperactive behavior comorbidity allergic diseases in pre-school children [J]. Journal of Clinical Pediatrics, 2023, 41(3): 215-218. |
[12] | HU Xuyun, HAO Chanjuan. Genetic diagnosis and management of TRPV4 disorders [J]. Journal of Clinical Pediatrics, 2023, 41(2): 86-91. |
[13] | SUN Luming, DUAN Tao. The role of pediatric specialists in multidisciplinary diagnosis and treatment of fetal diseases [J]. Journal of Clinical Pediatrics, 2023, 41(1): 6-10. |
[14] | XU Meng, XIE Lijian. Research status of cardiac autonomic nervous system regulation in vasovagal syncope in children [J]. Journal of Clinical Pediatrics, 2022, 40(7): 494-499. |
[15] | ZENG Senqiang, FAN Huifeng, LIN Haiyang, LIANG Yufeng, ZHANG Dongwei, LU Gen. Clinical analysis of 23 HIV-negative children with Talaromyces marneffei infections [J]. Journal of Clinical Pediatrics, 2022, 40(6): 446-449. |
|