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[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 phenotyp
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 to ident
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent h
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.
Four late onset, atypical AHC patients were also mutation positive, suggesting the need for testing ATP1A3 mutations in atypical cases. ...Genotype-phenotype correlation analysis showed that patients with epilepsy were more …
Four late onset, atypical AHC patients were also mutation positive, suggesting the need for testing ATP1A3 mutations