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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. ...Genotype-phenotype correlation analysis showed that patients with epilepsy were more likely to carry E815K mutation. ...
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ...Genotype-phen
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
[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). ...SPSS 23.0 was used to analyze the correlation between genotype and p
Objective: To explore the correlation between ATP1A3 genotype and phenotype in children with alternating
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 correlation between the genotype and phenotype requires further exploration. ...The genotype-phenotype correlation of ATP1A3-disorders remains unclear. ...
The correlation between the genotype and phenotype requires further exploration. ...The genotype-phenotype