Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations...
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
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Author / Creator
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, 2nd, 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 and Swoboda, Kathryn J
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 genotype-phenotype correlations in all eligible patient...
Alternative Titles
Full title
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Authors, Artists and Contributors
Author / Creator
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, 2nd, 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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1682424038
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1682424038
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0127045
