Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genot...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4440742/
https://ncbi.nlm.nih.gov/pubmed/25996915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0127045
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