ATP1A3 mosaicism in families with alternating hemiplegia of childhood

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 identify the origin of ATP1A3 pathogenic variants in...

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Enregistré dans:
Détails bibliographiques
Publié dans:Clin Genet
Auteurs principaux: Yang, Xiaoling, Yang, Xiaoxu, Chen, Jiaoyang, Li, Shupin, Zeng, Qi, Huang, August Y., Ye, Adam Y., Yu, Zhe, Wang, Sheng, Jiang, Yuwu, Wu, Xiru, Wu, Qixi, Wei, Liping, Zhang, Yuehua
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2019
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6850116/
https://ncbi.nlm.nih.gov/pubmed/30891744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13539
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