WDR45 基因突变致 Rett 样症状与痉挛共存发作一例_Journal of Epilepsy

Authors：

 李沁晏 , 廉荣镇

郴州市第一人民医院儿童神经内科（郴州 423000）;

Corresponding author：

李沁晏, Email: lqy1378651@sohu.com

Keywords：

DOI：

10.7507/2096-0247.20210061

Video：

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Citation： 李沁晏, 廉荣镇. WDR45 基因突变致 Rett 样症状与痉挛共存发作一例. Journal of Epilepsy, 2021, 7(4): 379-383. doi: 10.7507/2096-0247.20210061 Copy

1.	李文辉, 陈倩, 王华, 等. 儿童β螺旋蛋白相关性神经变性的基因型和表型特点. 中华儿科杂志, 2019, 57(11): 830-836.
2.	Nakashima M, Takano K, Tsuyusaki Y, et al. WDR45 mutations in three male patients with West syndrome. J Hum Genet, 2016, 61(7): 653-661.
3.	万慧达. 基于蛋白质组学方法研究自噬基因PINK1和WDR45突变诱发的神经退行性病变机制[D]. 上海: 华东师范大学, 2019: 81-86.
4.	Hoffjan S, Ibisler A, Tschentscher A, et al. WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature. Mol Cell Probes, 2016, 30(1): 44-49.
5.	Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, et al. Clinician"s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin Genet, 2019, 95(2): 221-230.
6.	赵敏, 冯英, 陈玉霞, 刘玲, 等. 2例神经退行性变伴脑铁沉积症5型患儿临床及遗传学分析. 临床儿科杂志, 2018, 36(11): 820-823+830.
7.	李国华, 李国平, 等. 清华大学出版社. 抑制和兴奋的联合减少是Rett综合征皮层处理的环路性改变的基础. 美国国家科学院, 2016, 113: E7287-296.
8.	Banerjee A, Miller MT, Li K, et al. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain, 2019, 142(2): 239-248.
9.	Ip JPK, Mellios N, Sur M. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci, 2018, 19(6): 368-382.
10.	Zhu YC, Xiong ZQ. Molecular and Synaptic Bases of CDKL5 Disorder. Dev Neurobiol, 2019, 79(1): 8-19.
11.	Ehrhart F, Sangani NB, Curfs LMG. Current developments in the genetics of Rett and Rett-like syndrome. Curr Opin Psychiatry, 2018, 31(2): 103-108.
12.	Operto FF, Mazza R, Pastorino GMG. Epilepsy and genetic in Rett syndrome: A review. Brain Behav, 2019, 9(5): e01250.
13.	Tang X, Lan X, Song X, et al. De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families. Mol Genet Genomic Med, 2020, 8(11): e1499.
14.	Ehrhart F, Coort S.L, Eijssen L, et al Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. The world Journal of Biological Psychiatry, 2019, 21(10): 712-725.
15.	Wang J, Zhang Q, Chen Y, et al. Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. Mol Genet Genomic Med, 2019, 7(11): e968.
16.	Yoo Y, Jung J, Lee YN, et al. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol, 2017, 82(3): 466-478.
17.	Vidal S, Xiol C, Pascual-Alonso A, et al. Genetic landscape of Rett syndrome spectrum: improvements and challenges. Int J Mol Sci, 2019, 20(16): 3925.
18.	Wan H, Wang Q, Chen X, et al. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. Autophagy, 2020, 16(3): 531-547.
19.	Krey I, Krois-Neudenberger J, Hentschel J, et al. Genotype-phenotype correlation on 45 individuals with West syndrome. Eur J Paediatr Neurol, 2020, 25: 134-138.
20.	Christoforou S, Christodoulou K, Anastasiadou V, et al. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet, 2020, 63(3): 103765.

1. 李文辉, 陈倩, 王华, 等. 儿童β螺旋蛋白相关性神经变性的基因型和表型特点. 中华儿科杂志, 2019, 57(11): 830-836.
2. Nakashima M, Takano K, Tsuyusaki Y, et al. WDR45 mutations in three male patients with West syndrome. J Hum Genet, 2016, 61(7): 653-661.
3. 万慧达. 基于蛋白质组学方法研究自噬基因PINK1和WDR45突变诱发的神经退行性病变机制[D]. 上海: 华东师范大学, 2019: 81-86.
4. Hoffjan S, Ibisler A, Tschentscher A, et al. WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature. Mol Cell Probes, 2016, 30(1): 44-49.
5. Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, et al. Clinician"s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin Genet, 2019, 95(2): 221-230.
6. 赵敏, 冯英, 陈玉霞, 刘玲, 等. 2例神经退行性变伴脑铁沉积症5型患儿临床及遗传学分析. 临床儿科杂志, 2018, 36(11): 820-823+830.
7. 李国华, 李国平, 等. 清华大学出版社. 抑制和兴奋的联合减少是Rett综合征皮层处理的环路性改变的基础. 美国国家科学院, 2016, 113: E7287-296.
8. Banerjee A, Miller MT, Li K, et al. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain, 2019, 142(2): 239-248.
9. Ip JPK, Mellios N, Sur M. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci, 2018, 19(6): 368-382.
10. Zhu YC, Xiong ZQ. Molecular and Synaptic Bases of CDKL5 Disorder. Dev Neurobiol, 2019, 79(1): 8-19.
11. Ehrhart F, Sangani NB, Curfs LMG. Current developments in the genetics of Rett and Rett-like syndrome. Curr Opin Psychiatry, 2018, 31(2): 103-108.
12. Operto FF, Mazza R, Pastorino GMG. Epilepsy and genetic in Rett syndrome: A review. Brain Behav, 2019, 9(5): e01250.
13. Tang X, Lan X, Song X, et al. De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families. Mol Genet Genomic Med, 2020, 8(11): e1499.
14. Ehrhart F, Coort S.L, Eijssen L, et al Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. The world Journal of Biological Psychiatry, 2019, 21(10): 712-725.
15. Wang J, Zhang Q, Chen Y, et al. Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. Mol Genet Genomic Med, 2019, 7(11): e968.
16. Yoo Y, Jung J, Lee YN, et al. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol, 2017, 82(3): 466-478.
17. Vidal S, Xiol C, Pascual-Alonso A, et al. Genetic landscape of Rett syndrome spectrum: improvements and challenges. Int J Mol Sci, 2019, 20(16): 3925.
18. Wan H, Wang Q, Chen X, et al. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. Autophagy, 2020, 16(3): 531-547.
19. Krey I, Krois-Neudenberger J, Hentschel J, et al. Genotype-phenotype correlation on 45 individuals with West syndrome. Eur J Paediatr Neurol, 2020, 25: 134-138.
20. Christoforou S, Christodoulou K, Anastasiadou V, et al. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet, 2020, 63(3): 103765.

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