Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Identifieur interne : 002D48 ( PubMed/Corpus ); précédent : 002D47; suivant : 002D49Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Auteurs : Louis Viollet ; Gustavo Glusman ; Kelley J. Murphy ; Tara M. Newcomb ; Sandra P. Reyna ; Matthew Sweney ; Benjamin Nelson ; Frederick Andermann ; Eva Andermann ; Gyula Acsadi ; Richard L. Barbano ; Candida Brown ; Mary E. Brunkow ; Harry T. Chugani ; Sarah R. Cheyette ; Abigail Collins ; Suzanne D. Debrosse ; David Galas ; Jennifer Friedman ; Lee Hood ; Chad Huff ; Lynn B. Jorde ; Mary D. King ; Bernie Lasalle ; Richard J. Leventer ; Aga J. Lewelt ; Mylynda B. Massart ; Mario R. Mérida ; Louis J. Ptá Ek ; Jared C. Roach ; Robert S. Rust ; Francis Renault ; Terry D. Sanger ; Marcio A. Sotero De Menezes ; Rachel Tennyson ; Peter Uldall ; Yue Zhang ; Mary Zupanc ; Winnie Xin ; Kenneth Silver ; Kathryn J. SwobodaSource :
- PloS one [ 1932-6203 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- genetics : Hemiplegia.
- physiopathology : Hemiplegia.
- Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genetic Association Studies, Humans, Infant, Male, Registries.
Abstract
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 patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are clusteredin exons 17 and 18. Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. This study further expands the number and spectrum of ATP1A3 mutations associated with AHC and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes. However, the complexity of the disorder and the extensive phenotypic variability among subgroups merits caution and emphasizes the need for further studies.
DOI: 10.1371/journal.pone.0127045
PubMed: 25996915
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pubmed:25996915Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.</title><author><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Glusman, Gustavo" sort="Glusman, Gustavo" uniqKey="Glusman G" first="Gustavo" last="Glusman">Gustavo Glusman</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Murphy, Kelley J" sort="Murphy, Kelley J" uniqKey="Murphy K" first="Kelley J" last="Murphy">Kelley J. Murphy</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Newcomb, Tara M" sort="Newcomb, Tara M" uniqKey="Newcomb T" first="Tara M" last="Newcomb">Tara M. Newcomb</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Reyna, Sandra P" sort="Reyna, Sandra P" uniqKey="Reyna S" first="Sandra P" last="Reyna">Sandra P. Reyna</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Sweney, Matthew" sort="Sweney, Matthew" uniqKey="Sweney M" first="Matthew" last="Sweney">Matthew Sweney</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Nelson, Benjamin" sort="Nelson, Benjamin" uniqKey="Nelson B" first="Benjamin" last="Nelson">Benjamin Nelson</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Acsadi, Gyula" sort="Acsadi, Gyula" uniqKey="Acsadi G" first="Gyula" last="Acsadi">Gyula Acsadi</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Hartford, CT, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Barbano, Richard L" sort="Barbano, Richard L" uniqKey="Barbano R" first="Richard L" last="Barbano">Richard L. Barbano</name><affiliation><nlm:affiliation>Department of Neurology, University of Rochester School of Medicine, Rochester, New York, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Brown, Candida" sort="Brown, Candida" uniqKey="Brown C" first="Candida" last="Brown">Candida Brown</name><affiliation><nlm:affiliation>Diablo Valley Child Neurology, an affiliate of Stanford Health Alliance, Pleasant Hill, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Brunkow, Mary E" sort="Brunkow, Mary E" uniqKey="Brunkow M" first="Mary E" last="Brunkow">Mary E. Brunkow</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Chugani, Harry T" sort="Chugani, Harry T" uniqKey="Chugani H" first="Harry T" last="Chugani">Harry T. Chugani</name><affiliation><nlm:affiliation>Division of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Cheyette, Sarah R" sort="Cheyette, Sarah R" uniqKey="Cheyette S" first="Sarah R" last="Cheyette">Sarah R. Cheyette</name><affiliation><nlm:affiliation>Department of Child Neurology, Palo Alto Medical Foundation Redwood City Clinic, Redwood City, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Abigail" sort="Collins, Abigail" uniqKey="Collins A" first="Abigail" last="Collins">Abigail Collins</name><affiliation><nlm:affiliation>Department of Pediatric Neurology, Children's Hospital Colorado, University of Colorado Hospital, Aurora, Colorado, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Debrosse, Suzanne D" sort="Debrosse, Suzanne D" uniqKey="Debrosse S" first="Suzanne D" last="Debrosse">Suzanne D. Debrosse</name><affiliation><nlm:affiliation>Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, Case Western Reserve University and University Hospitals Case Medical Center, Cleveland, Ohio, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Galas, David" sort="Galas, David" uniqKey="Galas D" first="David" last="Galas">David Galas</name><affiliation><nlm:affiliation>Pacific Northwest Diabetes Research Institute, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation><nlm:affiliation>Departments of Neuroscience and Pediatrics, University of California San Diego, San Diego, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Hood, Lee" sort="Hood, Lee" uniqKey="Hood L" first="Lee" last="Hood">Lee Hood</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name><affiliation><nlm:affiliation>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B" last="Jorde">Lynn B. Jorde</name><affiliation><nlm:affiliation>Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Lasalle, Bernie" sort="Lasalle, Bernie" uniqKey="Lasalle B" first="Bernie" last="Lasalle">Bernie Lasalle</name><affiliation><nlm:affiliation>Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:affiliation>Children's Neuroscience Centre, Murdoch Childrens Research Institute, University of Melbourne Department of Paediatrics, The Royal Children's Hospital Melbourne, Parkville Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Lewelt, Aga J" sort="Lewelt, Aga J" uniqKey="Lewelt A" first="Aga J" last="Lewelt">Aga J. Lewelt</name><affiliation><nlm:affiliation>Department of Pediatrics, College of Medicine Jacksonville, University of Florida, Jacksonville, Florida, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Massart, Mylynda B" sort="Massart, Mylynda B" uniqKey="Massart M" first="Mylynda B" last="Massart">Mylynda B. Massart</name><affiliation><nlm:affiliation>Department of Family Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Merida, Mario R" sort="Merida, Mario R" uniqKey="Merida M" first="Mario R" last="Mérida">Mario R. Mérida</name><affiliation><nlm:affiliation>Stevens Henager College, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Pta Ek, Louis J" sort="Pta Ek, Louis J" uniqKey="Pta Ek L" first="Louis J" last="Ptá Ek">Louis J. Ptá Ek</name><affiliation><nlm:affiliation>Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Roach, Jared C" sort="Roach, Jared C" uniqKey="Roach J" first="Jared C" last="Roach">Jared C. Roach</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Rust, Robert S" sort="Rust, Robert S" uniqKey="Rust R" first="Robert S" last="Rust">Robert S. Rust</name><affiliation><nlm:affiliation>Center for Medical Ethics and Humanities in Medicine, University Of Virginia UVA health system, Charlottesville, Virginia, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Renault, Francis" sort="Renault, Francis" uniqKey="Renault F" first="Francis" last="Renault">Francis Renault</name><affiliation><nlm:affiliation>Departement de Neurophysiologie. Hopital Armand Trousseau APHP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sanger, Terry D" sort="Sanger, Terry D" uniqKey="Sanger T" first="Terry D" last="Sanger">Terry D. Sanger</name><affiliation><nlm:affiliation>Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Sotero De Menezes, Marcio A" sort="Sotero De Menezes, Marcio A" uniqKey="Sotero De Menezes M" first="Marcio A" last="Sotero De Menezes">Marcio A. Sotero De Menezes</name><affiliation><nlm:affiliation>Swedish Neuroscience Institute, Swedish Medical Center, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Tennyson, Rachel" sort="Tennyson, Rachel" uniqKey="Tennyson R" first="Rachel" last="Tennyson">Rachel Tennyson</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Yue" sort="Zhang, Yue" uniqKey="Zhang Y" first="Yue" last="Zhang">Yue Zhang</name><affiliation><nlm:affiliation>Study Design and Biostatistics Center, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Zupanc, Mary" sort="Zupanc, Mary" uniqKey="Zupanc M" first="Mary" last="Zupanc">Mary Zupanc</name><affiliation><nlm:affiliation>Department of Neurology, Children's Hospital Orange County, and Department of Pediatrics, University of California, Orange, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name><affiliation><nlm:affiliation>Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, University of Chicago and Comer Children's Hospital, Chicago, Illinois, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J" last="Swoboda">Kathryn J. Swoboda</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25996915</idno><idno type="pmid">25996915</idno><idno type="doi">10.1371/journal.pone.0127045</idno><idno type="wicri:Area/PubMed/Corpus">002D48</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002D48</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.</title><author><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Glusman, Gustavo" sort="Glusman, Gustavo" uniqKey="Glusman G" first="Gustavo" last="Glusman">Gustavo Glusman</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Murphy, Kelley J" sort="Murphy, Kelley J" uniqKey="Murphy K" first="Kelley J" last="Murphy">Kelley J. Murphy</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Newcomb, Tara M" sort="Newcomb, Tara M" uniqKey="Newcomb T" first="Tara M" last="Newcomb">Tara M. Newcomb</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Reyna, Sandra P" sort="Reyna, Sandra P" uniqKey="Reyna S" first="Sandra P" last="Reyna">Sandra P. Reyna</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Sweney, Matthew" sort="Sweney, Matthew" uniqKey="Sweney M" first="Matthew" last="Sweney">Matthew Sweney</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Nelson, Benjamin" sort="Nelson, Benjamin" uniqKey="Nelson B" first="Benjamin" last="Nelson">Benjamin Nelson</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Acsadi, Gyula" sort="Acsadi, Gyula" uniqKey="Acsadi G" first="Gyula" last="Acsadi">Gyula Acsadi</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Hartford, CT, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Barbano, Richard L" sort="Barbano, Richard L" uniqKey="Barbano R" first="Richard L" last="Barbano">Richard L. Barbano</name><affiliation><nlm:affiliation>Department of Neurology, University of Rochester School of Medicine, Rochester, New York, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Brown, Candida" sort="Brown, Candida" uniqKey="Brown C" first="Candida" last="Brown">Candida Brown</name><affiliation><nlm:affiliation>Diablo Valley Child Neurology, an affiliate of Stanford Health Alliance, Pleasant Hill, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Brunkow, Mary E" sort="Brunkow, Mary E" uniqKey="Brunkow M" first="Mary E" last="Brunkow">Mary E. Brunkow</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Chugani, Harry T" sort="Chugani, Harry T" uniqKey="Chugani H" first="Harry T" last="Chugani">Harry T. Chugani</name><affiliation><nlm:affiliation>Division of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Cheyette, Sarah R" sort="Cheyette, Sarah R" uniqKey="Cheyette S" first="Sarah R" last="Cheyette">Sarah R. Cheyette</name><affiliation><nlm:affiliation>Department of Child Neurology, Palo Alto Medical Foundation Redwood City Clinic, Redwood City, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Abigail" sort="Collins, Abigail" uniqKey="Collins A" first="Abigail" last="Collins">Abigail Collins</name><affiliation><nlm:affiliation>Department of Pediatric Neurology, Children's Hospital Colorado, University of Colorado Hospital, Aurora, Colorado, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Debrosse, Suzanne D" sort="Debrosse, Suzanne D" uniqKey="Debrosse S" first="Suzanne D" last="Debrosse">Suzanne D. Debrosse</name><affiliation><nlm:affiliation>Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, Case Western Reserve University and University Hospitals Case Medical Center, Cleveland, Ohio, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Galas, David" sort="Galas, David" uniqKey="Galas D" first="David" last="Galas">David Galas</name><affiliation><nlm:affiliation>Pacific Northwest Diabetes Research Institute, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation><nlm:affiliation>Departments of Neuroscience and Pediatrics, University of California San Diego, San Diego, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Hood, Lee" sort="Hood, Lee" uniqKey="Hood L" first="Lee" last="Hood">Lee Hood</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name><affiliation><nlm:affiliation>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B" last="Jorde">Lynn B. Jorde</name><affiliation><nlm:affiliation>Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Lasalle, Bernie" sort="Lasalle, Bernie" uniqKey="Lasalle B" first="Bernie" last="Lasalle">Bernie Lasalle</name><affiliation><nlm:affiliation>Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:affiliation>Children's Neuroscience Centre, Murdoch Childrens Research Institute, University of Melbourne Department of Paediatrics, The Royal Children's Hospital Melbourne, Parkville Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Lewelt, Aga J" sort="Lewelt, Aga J" uniqKey="Lewelt A" first="Aga J" last="Lewelt">Aga J. Lewelt</name><affiliation><nlm:affiliation>Department of Pediatrics, College of Medicine Jacksonville, University of Florida, Jacksonville, Florida, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Massart, Mylynda B" sort="Massart, Mylynda B" uniqKey="Massart M" first="Mylynda B" last="Massart">Mylynda B. Massart</name><affiliation><nlm:affiliation>Department of Family Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Merida, Mario R" sort="Merida, Mario R" uniqKey="Merida M" first="Mario R" last="Mérida">Mario R. Mérida</name><affiliation><nlm:affiliation>Stevens Henager College, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Pta Ek, Louis J" sort="Pta Ek, Louis J" uniqKey="Pta Ek L" first="Louis J" last="Ptá Ek">Louis J. Ptá Ek</name><affiliation><nlm:affiliation>Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Roach, Jared C" sort="Roach, Jared C" uniqKey="Roach J" first="Jared C" last="Roach">Jared C. Roach</name><affiliation><nlm:affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Rust, Robert S" sort="Rust, Robert S" uniqKey="Rust R" first="Robert S" last="Rust">Robert S. Rust</name><affiliation><nlm:affiliation>Center for Medical Ethics and Humanities in Medicine, University Of Virginia UVA health system, Charlottesville, Virginia, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Renault, Francis" sort="Renault, Francis" uniqKey="Renault F" first="Francis" last="Renault">Francis Renault</name><affiliation><nlm:affiliation>Departement de Neurophysiologie. Hopital Armand Trousseau APHP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Sanger, Terry D" sort="Sanger, Terry D" uniqKey="Sanger T" first="Terry D" last="Sanger">Terry D. Sanger</name><affiliation><nlm:affiliation>Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Sotero De Menezes, Marcio A" sort="Sotero De Menezes, Marcio A" uniqKey="Sotero De Menezes M" first="Marcio A" last="Sotero De Menezes">Marcio A. Sotero De Menezes</name><affiliation><nlm:affiliation>Swedish Neuroscience Institute, Swedish Medical Center, Seattle, Washington, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Tennyson, Rachel" sort="Tennyson, Rachel" uniqKey="Tennyson R" first="Rachel" last="Tennyson">Rachel Tennyson</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Yue" sort="Zhang, Yue" uniqKey="Zhang Y" first="Yue" last="Zhang">Yue Zhang</name><affiliation><nlm:affiliation>Study Design and Biostatistics Center, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Zupanc, Mary" sort="Zupanc, Mary" uniqKey="Zupanc M" first="Mary" last="Zupanc">Mary Zupanc</name><affiliation><nlm:affiliation>Department of Neurology, Children's Hospital Orange County, and Department of Pediatrics, University of California, Orange, California, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name><affiliation><nlm:affiliation>Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, University of Chicago and Comer Children's Hospital, Chicago, Illinois, United States of America.</nlm:affiliation></affiliation></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J" last="Swoboda">Kathryn J. Swoboda</name><affiliation><nlm:affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</nlm:affiliation></affiliation></author></analytic><series><title level="j">PloS one</title><idno type="eISSN">1932-6203</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Association Studies</term><term>Hemiplegia (genetics)</term><term>Hemiplegia (physiopathology)</term><term>Humans</term><term>Infant</term><term>Male</term><term>Registries</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hemiplegia</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Hemiplegia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Registries</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are clusteredin exons 17 and 18. Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. This study further expands the number and spectrum of ATP1A3 mutations associated with AHC and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes. However, the complexity of the disorder and the extensive phenotypic variability among subgroups merits caution and emphasizes the need for further studies.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25996915</PMID><DateCreated><Year>2015</Year><Month>05</Month><Day>22</Day></DateCreated><DateCompleted><Year>2016</Year><Month>02</Month><Day>10</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Electronic">1932-6203</ISSN><JournalIssue CitedMedium="Internet"><Volume>10</Volume><Issue>5</Issue><PubDate><Year>2015</Year></PubDate></JournalIssue><Title>PloS one</Title><ISOAbbreviation>PLoS ONE</ISOAbbreviation></Journal><ArticleTitle>Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.</ArticleTitle><Pagination><MedlinePgn>e0127045</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1371/journal.pone.0127045</ELocationID><Abstract><AbstractText>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 patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are clusteredin exons 17 and 18. Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. This study further expands the number and spectrum of ATP1A3 mutations associated with AHC and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes. However, the complexity of the disorder and the extensive phenotypic variability among subgroups merits caution and emphasizes the need for further studies.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Viollet</LastName><ForeName>Louis</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Glusman</LastName><ForeName>Gustavo</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Murphy</LastName><ForeName>Kelley J</ForeName><Initials>KJ</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Newcomb</LastName><ForeName>Tara M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reyna</LastName><ForeName>Sandra P</ForeName><Initials>SP</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sweney</LastName><ForeName>Matthew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nelson</LastName><ForeName>Benjamin</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Frederick</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Eva</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Acsadi</LastName><ForeName>Gyula</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Departments of Pediatrics and Neurology, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Hartford, CT, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barbano</LastName><ForeName>Richard L</ForeName><Initials>RL</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Rochester School of Medicine, Rochester, New York, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brown</LastName><ForeName>Candida</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Diablo Valley Child Neurology, an affiliate of Stanford Health Alliance, Pleasant Hill, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brunkow</LastName><ForeName>Mary E</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chugani</LastName><ForeName>Harry T</ForeName><Initials>HT</Initials><AffiliationInfo><Affiliation>Division of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cheyette</LastName><ForeName>Sarah R</ForeName><Initials>SR</Initials><AffiliationInfo><Affiliation>Department of Child Neurology, Palo Alto Medical Foundation Redwood City Clinic, Redwood City, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Abigail</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatric Neurology, Children's Hospital Colorado, University of Colorado Hospital, Aurora, Colorado, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>DeBrosse</LastName><ForeName>Suzanne D</ForeName><Initials>SD</Initials><AffiliationInfo><Affiliation>Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, Case Western Reserve University and University Hospitals Case Medical Center, Cleveland, Ohio, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Galas</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Pacific Northwest Diabetes Research Institute, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Friedman</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Departments of Neuroscience and Pediatrics, University of California San Diego, San Diego, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hood</LastName><ForeName>Lee</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Huff</LastName><ForeName>Chad</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jorde</LastName><ForeName>Lynn B</ForeName><Initials>LB</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>King</LastName><ForeName>Mary D</ForeName><Initials>MD</Initials><AffiliationInfo><Affiliation>Departments of Pediatrics and Neurology, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>LaSalle</LastName><ForeName>Bernie</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leventer</LastName><ForeName>Richard J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Children's Neuroscience Centre, Murdoch Childrens Research Institute, University of Melbourne Department of Paediatrics, The Royal Children's Hospital Melbourne, Parkville Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lewelt</LastName><ForeName>Aga J</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, College of Medicine Jacksonville, University of Florida, Jacksonville, Florida, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Massart</LastName><ForeName>Mylynda B</ForeName><Initials>MB</Initials><AffiliationInfo><Affiliation>Department of Family Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mérida</LastName><ForeName>Mario R</ForeName><Initials>MR</Initials><Suffix>2nd</Suffix><AffiliationInfo><Affiliation>Stevens Henager College, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ptáček</LastName><ForeName>Louis J</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roach</LastName><ForeName>Jared C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Institute for Systems Biology, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rust</LastName><ForeName>Robert S</ForeName><Initials>RS</Initials><AffiliationInfo><Affiliation>Center for Medical Ethics and Humanities in Medicine, University Of Virginia UVA health system, Charlottesville, Virginia, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Renault</LastName><ForeName>Francis</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Departement de Neurophysiologie. Hopital Armand Trousseau APHP, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sanger</LastName><ForeName>Terry D</ForeName><Initials>TD</Initials><AffiliationInfo><Affiliation>Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sotero de Menezes</LastName><ForeName>Marcio A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Swedish Neuroscience Institute, Swedish Medical Center, Seattle, Washington, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tennyson</LastName><ForeName>Rachel</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Uldall</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Yue</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Study Design and Biostatistics Center, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zupanc</LastName><ForeName>Mary</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology, Children's Hospital Orange County, and Department of Pediatrics, University of California, Orange, California, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Xin</LastName><ForeName>Winnie</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Silver</LastName><ForeName>Kenneth</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Departments of Pediatrics and Neurology, University of Chicago and Comer Children's Hospital, Chicago, Illinois, United States of America.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Swoboda</LastName><ForeName>Kathryn J</ForeName><Initials>KJ</Initials><AffiliationInfo><Affiliation>Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P50 GM076547</GrantID><Acronym>GM</Acronym><Agency>NIGMS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>05</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>PLoS One</MedlineTA><NlmUniqueID>101285081</NlmUniqueID><ISSNLinking>1932-6203</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.6.3.9</RegistryNumber><NameOfSubstance UI="C488756">ATP1A3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.3.9</RegistryNumber><NameOfSubstance UI="D000254">Sodium-Potassium-Exchanging 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MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006429" MajorTopicYN="N">Hemiplegia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012042" MajorTopicYN="N">Registries</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000254" MajorTopicYN="N">Sodium-Potassium-Exchanging ATPase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4440742</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>12</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>04</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>5</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>5</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25996915</ArticleId><ArticleId IdType="doi">10.1371/journal.pone.0127045</ArticleId><ArticleId IdType="pii">PONE-D-14-55072</ArticleId><ArticleId IdType="pmc">PMC4440742</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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