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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440742/
https://www.ncbi.nlm.nih.gov/pubmed/25996915
http://dx.doi.org/10.1371/journal.pone.0127045

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