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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850116/
https://www.ncbi.nlm.nih.gov/pubmed/30891744
http://dx.doi.org/10.1111/cge.13539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850116/
https://www.ncbi.nlm.nih.gov/pubmed/30891744
http://dx.doi.org/10.1111/cge.13539

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