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ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y. Yang X, et al. PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014. PLoS One. 2014. PMID: 24842602 Free PMC article.
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. ...Genotype-phenotype correlation analysis showed that patients with epilepsy …
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently …
[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood].
Li SP, Zhang YH, Yang XL, Chen JY, Zeng Q, Zhang J, Wu XR. Li SP, et al. Zhonghua Er Ke Za Zhi. 2018 Nov 2;56(11):811-817. doi: 10.3760/cma.j.issn.0578-1310.2018.11.004. Zhonghua Er Ke Za Zhi. 2018. PMID: 30392204 Chinese.
Objective: To explore the correlation between ATP1A3 genotype and phenotype in children with alternating hemiplegia of childhood (AHC). ...AHC patients were divided into difference groups according to different hotspo …
Objective: To explore the correlation between ATP1A3 genotype and phenotype in children with alternating …
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. Yang X, et al. Clin Genet. 2019 Jul;96(1):43-52. doi: 10.1111/cge.13539. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30891744 Free PMC article.
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was t …
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recu …
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D, Song X, Ma J, Li X, Guo Y, Li M, Luo H, Fang Z, Yang C, Xie L, Jiang L. Huang D, et al. Eur J Pediatr. 2023 Feb;182(2):825-836. doi: 10.1007/s00431-022-04744-w. Epub 2022 Dec 9. Eur J Pediatr. 2023. PMID: 36484864
The genotype-phenotype correlation of ATP1A3-disorders remains unclear. WHAT IS NEW: In this study, the genotypes and phenotypes of ATP1A3-related disorders from Southwest of China were described. ...The phenomenon indicated the diversity of t …
The genotype-phenotype correlation of ATP1A3-disorders remains unclear. WHAT IS NEW: In this study, the genoty …