类细胞周期蛋白依赖性蛋白激酶5缺乏症诊断与治疗的中国专家共识_Journal of Epilepsy

Authors：

 中国抗癫痫协会创新与转化专业委员会 , 中华医学会儿科学分会罕见病学组 , 中华医学会儿科学分会神经学组

执笔季涛云、姜玉武（北京大学第一医院），蒋莉（重庆医科大学附属儿童医院），王艺、周水珍（复旦大学附属儿科医院），孙丹、刘智胜（华中科技大学同济医学院附属武汉儿童医院），梁建民（吉林大学第一医院），方方（首都医科大学附属北京儿童医院），高峰（浙江大学医学院附属儿童医院），杨光（中国人民解放军总医院），彭镜（中南大学湘雅医院）;

Corresponding author：

中国抗癫痫协会创新与转化专业委员会, Email: jiangyuwu@bjmu.edu.cn

Keywords：

DOI：

10.7507/2096-0247.202408008

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2. Leonard H, Downs J, Benke TA, et al. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol, 2022, 21(6): 563-576.
3. Benke TA, Angione K, Downs J, et al. CDKL5 deficiency disorder. genereviews®[Internet], 2024.
4. Amin S, Møller RS, Aledo-Serrano A, et al. Providing quality care for people with CDKL5 deficiency disorder: a European expert panel opinion on the patient journey. Epilepsia Open, 2024, 9(3): 832-849.
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7. 中国CDKL5互助联盟. 认识CDKL综合征 [EB/OL] [June 19, 2024]. https://mp.weixin.qq.com/s/euEblnx0MA44zLZf-22BHw.
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9. 廖赵妹, 蔡思铭, 陈剑标, 等. 早发性癫痫脑病患儿SCN1A CDKL5 基因突变特点与临床特征. 河北医学, 2022, 28(6): 950-955.
10. 郭玮, 郁莉斐, 蒋丽军, 等. 基因变异所致早发癫性脑病患儿临床特点及相关基因表型的临床分析. 中国医药, 2021, 16(7): 1033-1037.
11. 章清萍, 赵滢, 包新华, 等. 早发性癫痫脑病患儿的 CDKL5 基因突变特点与临床特征. 中华医学遗传学杂志, 2016, 33(3): 404-407.
12. 刘晓军, 张培元, 雷梅芳, 等. 早期癫性脑病临床表型和基因突变特征及二代基因测序在病因诊断中的应用. 中国现代神经疾病杂志, 2018, 18(6): 428-437.
13. 陈娇阳, 杨莹, 牛雪阳, 等. 新生儿期起病的遗传性癫痫141例致病基因和表型特点. 中华儿科杂志, 2021, 59(9): 767-771.
14. Peng P, Kessi M, Mao L, et al. Etiologic classification of 541 infantile spasms cases: a cohort study. Front Pediatr, 2022, 10: 774828.
15. Hu C, Liu D, Luo T, et al. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy. Epileptic Disord, 2022, 24(2): 343-352.
16. Van Bergen NJ, Massey S, Quigley A, et al. CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development. Biochem Soc Trans, 2022, 50(4): 1207-1224.
17. 中华人民共和国教育部. 0~6岁儿童发展的里程碑. 2011.
18. Wong K, Junaid M, Demarest S, et al. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet, 2023, 31(2): 169-178.
19. O'Callaghan FJK, Edwards SW, Alber FD, et al. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child Adolesc Health, 2018, 2(10): 715-725.
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