Paroxysmal Tonic Upward Gaze: A Clinical Clue for CACNA1A-Related Disorders.
作者信息
Massuyama Breno Kazuo, Tonholo Silva Thiago Yoshinaga, Gambirasio Bruna Gutierres, Pedroso José Luiz, Barsottini Orlando Graziani Povoas
机构信息
Ataxia Unit, Department of Neurology Federal University of Sao Paulo Sao Paulo Brazil.
出版信息
Mov Disord Clin Pract. 2023 Jun 20;10(8):1225-1227. doi: 10.1002/mdc3.13809. eCollection 2023 Aug.
Abstract
摘要
相似文献
1
Paroxysmal Tonic Upward Gaze: A Clinical Clue for CACNA1A-Related Disorders.发作性强直性上视：与CACNA1A相关疾病的临床线索。
Mov Disord Clin Pract. 2023 Jun 20;10(8):1225-1227. doi: 10.1002/mdc3.13809. eCollection 2023 Aug.
2
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.阵发性强直性上视作为CACNA1A基因新发突变的一种表现形式。
Eur J Paediatr Neurol. 2015 May;19(3):292-7. doi: 10.1016/j.ejpn.2014.12.018. Epub 2015 Jan 8.
3
Paroxysmal tonic upward gaze complicating Angelman syndrome.发作性强直性向上凝视并发天使综合征。
Pediatr Neurol. 2015 Jan;52(1):125-7. doi: 10.1016/j.pediatrneurol.2014.08.022. Epub 2014 Sep 4.
4
Clinical phenotypes of infantile onset CACNA1A-related disorder.婴儿期起病的 CACNA1A 相关性疾病的临床表型。
Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20.
5
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.良性发作性斜颈、良性发作性眩晕和良性痉挛性上视均不是良性疾病。
Dev Med Child Neurol. 2018 Dec;60(12):1256-1263. doi: 10.1111/dmcn.13935. Epub 2018 Jun 21.
6
Identification of Two Variants of in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze.中国儿童发作性强直性上视患者中两种变体的鉴定。
Front Pediatr. 2021 Sep 24;9:722105. doi: 10.3389/fped.2021.722105. eCollection 2021.
7
Idiopathic paroxysmal tonic upward gaze.特发性阵发性强直向上凝视。
Pediatr Neurol. 2012 Oct;47(4):306-8. doi: 10.1016/j.pediatrneurol.2012.05.028.
8
The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?婴儿期良性阵发性斜颈的遗传学：与CACNA1A基因突变有关联吗？
J Child Neurol. 2016 Jul;31(8):1057-61. doi: 10.1177/0883073816636226. Epub 2016 Mar 9.
9
The complexities of CACNA1A in clinical neurogenetics.CACNA1A 在临床神经遗传学中的复杂性。
J Neurol. 2022 Jun;269(6):3094-3108. doi: 10.1007/s00415-021-10897-9. Epub 2021 Nov 22.
10
Developing a pathway to clinical trials for -related epilepsies: A patient organization perspective.为与……相关的癫痫症制定临床试验途径：患者组织视角
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.
引用本文的文献
1
Exome sequencing in Nigerian children with early-onset epilepsy syndromes.对患有早发性癫痫综合征的尼日利亚儿童进行外显子组测序。
Epilepsia Open. 2025 Feb;10(1):222-232. doi: 10.1002/epi4.13106. Epub 2024 Nov 21.
本文引用的文献
1
Clinical and genetic characterization of CACNA1A-related disease.CACNA1A 相关疾病的临床和遗传学特征。
Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26.
2
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.临床实践中发育性和癫痫性脑病患者的外显子组测序。
Dev Med Child Neurol. 2023 Jan;65(1):50-57. doi: 10.1111/dmcn.15308. Epub 2022 Jun 14.
3
From Genotype to Phenotype: Expanding the Clinical Spectrum of Variants in the Era of Next Generation Sequencing.从基因型到表型：在下一代测序时代拓展变异的临床谱
Front Neurol. 2021 Mar 2;12:639994. doi: 10.3389/fneur.2021.639994. eCollection 2021.
4
Clinical phenotypes of infantile onset CACNA1A-related disorder.婴儿期起病的 CACNA1A 相关性疾病的临床表型。
Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20.
5
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.阵发性强直上视：一种对碳酸酐酶抑制有反应的异质性临床病症。
Eur J Paediatr Neurol. 2020 Mar;25:181-186. doi: 10.1016/j.ejpn.2019.11.002. Epub 2019 Nov 20.
6
Recent Developments in Using as a Model for Human Genetic Disease.利用 作为人类遗传疾病模型的最新进展。
Int J Mol Sci. 2018 Jul 13;19(7):2041. doi: 10.3390/ijms19072041.
7
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.临床上严重的CACNA1A等位基因对突触功能和神经退行性变的影响存在差异。
PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul.
8
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.国际抗癫痫联盟癫痫分类：国际抗癫痫联盟分类与术语委员会立场文件
Epilepsia. 2017 Apr;58(4):512-521. doi: 10.1111/epi.13709. Epub 2017 Mar 8.
9
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.SLC1A2和CACNA1A基因的新发突变是癫痫性脑病的重要病因。
Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.
10
Eye movement disorders are an early manifestation of CACNA1A mutations in children.眼球运动障碍是儿童CACNA1A基因突变的早期表现。
Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27.
Zotero 插件