Distinct neurological disorders with ATP1A3 mutations.
Identifieur interne : 000757 ( PubMed/Curation ); précédent : 000756; suivant : 000758Distinct neurological disorders with ATP1A3 mutations.
Auteurs : Erin L. Heinzen [États-Unis] ; Alexis Arzimanoglou [France] ; Allison Brashear [États-Unis] ; Steven J. Clapcote [Royaume-Uni] ; Fiorella Gurrieri [Italie] ; David B. Goldstein [États-Unis] ; Sigur Ur H. J Hannesson [Islande] ; Mohamad A. Mikati [États-Unis] ; Brian Neville [Royaume-Uni] ; Sophie Nicole [France] ; Laurie J. Ozelius [États-Unis] ; Hanne Poulsen [Danemark] ; Tsveta Schyns [Belgique] ; Kathleen J. Sweadner [États-Unis] ; Arn Van Den Maagdenberg [Pays-Bas] ; Bente Vilsen [Danemark]Source :
- The Lancet. Neurology [ 1474-4465 ] ; 2014.
English descriptors
- KwdEn :
- Animals, Databases, Bibliographic (statistics & numerical data), Genetic Predisposition to Disease (genetics), Hemiplegia (genetics), Humans, Models, Molecular, Mutation (genetics), Nervous System Diseases (diagnosis), Nervous System Diseases (genetics), Parkinson Disease (genetics), Sodium-Potassium-Exchanging ATPase (genetics), Sodium-Potassium-Exchanging ATPase (metabolism).
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- diagnosis : Nervous System Diseases.
- genetics : Genetic Predisposition to Disease, Hemiplegia, Mutation, Nervous System Diseases, Parkinson Disease.
- chemical , metabolism : Sodium-Potassium-Exchanging ATPase.
- statistics & numerical data : Databases, Bibliographic.
- Animals, Humans, Models, Molecular.
Abstract
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
DOI: 10.1016/S1474-4422(14)70011-0
PubMed: 24739246
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Electronic address: e.heinzen@duke.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC</wicri:regionArea></affiliation></author><author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC</wicri:regionArea></affiliation></author><author><name sortKey="Clapcote, Steven J" sort="Clapcote, Steven J" uniqKey="Clapcote S" first="Steven J" last="Clapcote">Steven J. 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Ozelius</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Poulsen, Hanne" sort="Poulsen, Hanne" uniqKey="Poulsen H" first="Hanne" last="Poulsen">Hanne Poulsen</name><affiliation wicri:level="1"><nlm:affiliation>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus</wicri:regionArea></affiliation></author><author><name sortKey="Schyns, Tsveta" sort="Schyns, Tsveta" uniqKey="Schyns T" first="Tsveta" last="Schyns">Tsveta Schyns</name><affiliation wicri:level="1"><nlm:affiliation>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. 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Heinzen</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA. Electronic address: e.heinzen@duke.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC</wicri:regionArea></affiliation></author><author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC</wicri:regionArea></affiliation></author><author><name sortKey="Clapcote, Steven J" sort="Clapcote, Steven J" uniqKey="Clapcote S" first="Steven J" last="Clapcote">Steven J. Clapcote</name><affiliation wicri:level="1"><nlm:affiliation>School of Biomedical Sciences, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biomedical Sciences, University of Leeds, Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name><affiliation wicri:level="1"><nlm:affiliation>Istituto di Genetica Medica, Università Cattolica S Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica S Cuore, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC</wicri:regionArea></affiliation></author><author><name sortKey="J Hannesson, Sigur Ur H" sort="J Hannesson, Sigur Ur H" uniqKey="J Hannesson S" first="Sigur Ur H" last="J Hannesson">Sigur Ur H. J Hannesson</name><affiliation wicri:level="1"><nlm:affiliation>AHC Federation of Europe and AHC Association of Iceland, Reykjavik, Iceland.</nlm:affiliation><country xml:lang="fr">Islande</country><wicri:regionArea>AHC Federation of Europe and AHC Association of Iceland, Reykjavik</wicri:regionArea></affiliation></author><author><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A" last="Mikati">Mohamad A. Mikati</name><affiliation wicri:level="1"><nlm:affiliation>Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC</wicri:regionArea></affiliation></author><author><name sortKey="Neville, Brian" sort="Neville, Brian" uniqKey="Neville B" first="Brian" last="Neville">Brian Neville</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name><affiliation wicri:level="1"><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Poulsen, Hanne" sort="Poulsen, Hanne" uniqKey="Poulsen H" first="Hanne" last="Poulsen">Hanne Poulsen</name><affiliation wicri:level="1"><nlm:affiliation>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus</wicri:regionArea></affiliation></author><author><name sortKey="Schyns, Tsveta" sort="Schyns, Tsveta" uniqKey="Schyns T" first="Tsveta" last="Schyns">Tsveta Schyns</name><affiliation wicri:level="1"><nlm:affiliation>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name><affiliation wicri:level="1"><nlm:affiliation>Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurosurgery, Massachusetts General Hospital, Boston, MA</wicri:regionArea></affiliation></author><author><name sortKey="Van Den Maagdenberg, Arn" sort="Van Den Maagdenberg, Arn" uniqKey="Van Den Maagdenberg A" first="Arn" last="Van Den Maagdenberg">Arn Van Den Maagdenberg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Vilsen, Bente" sort="Vilsen, Bente" uniqKey="Vilsen B" first="Bente" last="Vilsen">Bente Vilsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biomedicine, Aarhus University, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Biomedicine, Aarhus University, Aarhus</wicri:regionArea></affiliation></author></analytic><series><title level="j">The Lancet. Neurology</title><idno type="eISSN">1474-4465</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Databases, Bibliographic (statistics & numerical data)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Hemiplegia (genetics)</term><term>Humans</term><term>Models, Molecular</term><term>Mutation (genetics)</term><term>Nervous System Diseases (diagnosis)</term><term>Nervous System Diseases (genetics)</term><term>Parkinson Disease (genetics)</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term><term>Sodium-Potassium-Exchanging ATPase (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Hemiplegia</term><term>Mutation</term><term>Nervous System Diseases</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Bibliographic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Humans</term><term>Models, Molecular</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24739246</PMID><DateCreated><Year>2014</Year><Month>04</Month><Day>17</Day></DateCreated><DateCompleted><Year>2014</Year><Month>06</Month><Day>02</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1474-4465</ISSN><JournalIssue CitedMedium="Internet"><Volume>13</Volume><Issue>5</Issue><PubDate><Year>2014</Year><Month>May</Month></PubDate></JournalIssue><Title>The Lancet. Neurology</Title><ISOAbbreviation>Lancet Neurol</ISOAbbreviation></Journal><ArticleTitle>Distinct neurological disorders with ATP1A3 mutations.</ArticleTitle><Pagination><MedlinePgn>503-14</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/S1474-4422(14)70011-0</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1474-4422(14)70011-0</ELocationID><Abstract><AbstractText>Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.</AbstractText><CopyrightInformation>Copyright © 2014 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Heinzen</LastName><ForeName>Erin L</ForeName><Initials>EL</Initials><AffiliationInfo><Affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA. Electronic address: e.heinzen@duke.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arzimanoglou</LastName><ForeName>Alexis</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brashear</LastName><ForeName>Allison</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clapcote</LastName><ForeName>Steven J</ForeName><Initials>SJ</Initials><AffiliationInfo><Affiliation>School of Biomedical Sciences, University of Leeds, Leeds, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gurrieri</LastName><ForeName>Fiorella</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Istituto di Genetica Medica, Università Cattolica S Cuore, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goldstein</LastName><ForeName>David B</ForeName><Initials>DB</Initials><AffiliationInfo><Affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jóhannesson</LastName><ForeName>Sigurður H</ForeName><Initials>SH</Initials><AffiliationInfo><Affiliation>AHC Federation of Europe and AHC Association of Iceland, Reykjavik, Iceland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mikati</LastName><ForeName>Mohamad A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neville</LastName><ForeName>Brian</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Institute of Child Health, University College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicole</LastName><ForeName>Sophie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ozelius</LastName><ForeName>Laurie J</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Poulsen</LastName><ForeName>Hanne</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schyns</LastName><ForeName>Tsveta</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sweadner</LastName><ForeName>Kathleen J</ForeName><Initials>KJ</Initials><AffiliationInfo><Affiliation>Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van den Maagdenberg</LastName><ForeName>Arn</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vilsen</LastName><ForeName>Bente</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Biomedicine, Aarhus University, Aarhus, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>ATP1A3 Working Group</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 NS058949</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS079750</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS050808</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>MOP4856</GrantID><Agency>Canadian Institutes of Health Research</Agency><Country>Canada</Country></Grant><Grant><GrantID>R21 NS081558</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Lancet Neurol</MedlineTA><NlmUniqueID>101139309</NlmUniqueID><ISSNLinking>1474-4422</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 ATPase</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C536589">Alternating hemiplegia of childhood</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2006 Jan;21(1):118-9</RefSource><PMID Version="1">16161139</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Physiol Regul Integr Comp Physiol. 2006 Mar;290(3):R529-35</RefSource><PMID Version="1">16467500</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2006 Jul 7;281(27):18539-48</RefSource><PMID Version="1">16632466</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2007 Jan 17;27(3):616-26</RefSource><PMID Version="1">17234593</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2007 Mar;130(Pt 3):828-35</RefSource><PMID Version="1">17282997</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2007 Jul 15;22(9):1325-7</RefSource><PMID Version="1">17516473</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Med Child Neurol. 2007 Oct;49(10):777-80</RefSource><PMID Version="1">17880649</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2007 Sep 15;22(12):1808-9</RefSource><PMID Version="1">17595045</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Apr 15;70(16 Pt 2):1501-3</RefSource><PMID Version="1">18413579</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol Sci. 2008 Oct 15;273(1-2):148-51</RefSource><PMID Version="1">18675996</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatrics. 2009 Mar;123(3):e534-41</RefSource><PMID Version="1">19254988</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2009 Jul 1;18(13):2370-7</RefSource><PMID Version="1">19351654</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2009 Aug 4;73(5):400-1</RefSource><PMID Version="1">19652145</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13742-7</RefSource><PMID Version="1">19666591</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14085-90</RefSource><PMID Version="1">19666602</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 2009 Sep;126(3):431-47</RefSource><PMID Version="1">19455355</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol. 2010 Mar;257(3):472-4</RefSource><PMID Version="1">19936820</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2010 Jun 10;362(23):2213-9</RefSource><PMID Version="1">20558373</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Epilepsy Res. 2010 Aug;90(3):248-58</RefSource><PMID Version="1">20580529</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2010 Aug 20;285(34):26245-54</RefSource><PMID Version="1">20576601</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Sep 2;467(7311):99-102</RefSource><PMID Version="1">20720542</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2010 Sep 22;30(38):12816-30</RefSource><PMID Version="1">20861386</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2012 Oct 30;79(18):e161-3</RefSource><PMID Version="1">23109658</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cell Mol Life Sci. 2013 Jan;70(2):205-22</RefSource><PMID Version="1">22695678</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2014 Feb 7;289(6):3186-97</RefSource><PMID Version="1">24356962</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2014 Feb 11;82(6):482-90</RefSource><PMID Version="1">24431296</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 1999 Oct;21(4):764</RefSource><PMID Version="1">10580894</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2000 Jan 21;275(3):1976-86</RefSource><PMID Version="1">10636900</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 2000 Aug;23(2):134-41</RefSource><PMID Version="1">11020638</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2000 Oct 10;55(7):991-5</RefSource><PMID Version="1">11061257</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2001 Jun 15;21(12):4207-14</RefSource><PMID Version="1">11404406</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genome Res. 2001 Jul;11(7):1211-20</RefSource><PMID Version="1">11435403</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain Dev. 2001 Aug;23(5):303-5</RefSource><PMID Version="1">11504600</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2002 Sep 1;22(17):7825-33</RefSource><PMID Version="1">12196606</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2002 Oct 11;277(41):38607-17</RefSource><PMID Version="1">12149251</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurophysiol. 2002 Dec;88(6):2963-78</RefSource><PMID Version="1">12466422</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2003 Feb 15;23(4):1276-86</RefSource><PMID Version="1">12598616</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuroscience. 2003;116(4):1069-80</RefSource><PMID Version="1">12617948</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Med Child Neurol. 2003 Dec;45(12):833-6</RefSource><PMID Version="1">14667076</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2003 Dec 19;278(51):51213-22</RefSource><PMID Version="1">14532287</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2004 Jun;55(6):884-7</RefSource><PMID Version="1">15174025</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2004 Jul 22;43(2):169-75</RefSource><PMID Version="1">15260953</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2004 Aug;41(8):621-8</RefSource><PMID Version="1">15286158</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 1972 Oct 25;247(20):6530-40</RefSource><PMID Version="1">4263199</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 1984 Sep 8;2(8402):579</RefSource><PMID Version="1">6147627</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuropediatrics. 1987 Nov;18(4):191-5</RefSource><PMID Version="1">3320807</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>EMBO J. 1989 Jan;8(1):193-202</RefSource><PMID Version="1">2540956</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochim Biophys Acta. 1989 May 9;988(2):185-220</RefSource><PMID Version="1">2541792</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 1991 Feb;11(2):381-91</RefSource><PMID Version="1">1846906</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1992 Dec;42(12):2251-7</RefSource><PMID Version="1">1361034</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1993 Jan;43(1):36-41</RefSource><PMID Version="1">8423908</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Behav Brain Res. 2011 Jan 20;216(2):659-65</RefSource><PMID Version="1">20850480</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2010 Dec;133(Pt 12):3598-610</RefSource><PMID Version="1">20974617</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Comp Neurol. 2011 Feb 1;519(2):376-404</RefSource><PMID Version="1">21165980</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>BMC Neurosci. 2011;12:16</RefSource><PMID Version="1">21272290</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2013;8(2):e56120</RefSource><PMID Version="1">23409136</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2013;8(3):e60141</RefSource><PMID Version="1">23527305</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2013 Mar 29;288(13):8862-74</RefSource><PMID Version="1">23400780</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Proteomics. 2013 Jun 28;86:53-69</RefSource><PMID Version="1">23681173</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Physiol. 2013 Jul 1;591(13):3433-49</RefSource><PMID Version="1">23652595</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2013;9(8):e1003709</RefSource><PMID Version="1">23990802</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Rev Genet. 2013 Oct;14(10):681-91</RefSource><PMID Version="1">23999272</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2013 Sep;28(10):1457-9</RefSource><PMID Version="1">23483595</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Paediatr Neurol. 2014 Jan;18(1):50-4</RefSource><PMID Version="1">24100174</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2014 Feb;46(2):144-51</RefSource><PMID Version="1">24336169</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Neurosci. 2011 Mar;14(3):357-65</RefSource><PMID Version="1">21297628</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genes Brain Behav. 2011 Jul;10(5):542-50</RefSource><PMID Version="1">21418141</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18144-9</RefSource><PMID Version="1">22025725</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2012 Jul;18(6):737-41</RefSource><PMID Version="1">22534615</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2012 Sep;11(9):764-73</RefSource><PMID Version="1">22850527</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2012 Sep;44(9):1030-4</RefSource><PMID Version="1">22842232</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2012 Sep 11;79(11):1168-73</RefSource><PMID Version="1">22933743</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Med Child Neurol. 2012 Nov;54(11):1065-7</RefSource><PMID Version="1">22924536</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Pediatr. 1993 May;122(5 Pt 1):673-9</RefSource><PMID Version="1">8496742</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1993 Dec;43(12):2596-602</RefSource><PMID Version="1">8255463</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1994 Oct;44(10):1812-4</RefSource><PMID Version="1">7936227</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 1996 Mar;11(2):151-6</RefSource><PMID Version="1">8684384</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur Arch Psychiatry Clin Neurosci. 1997;247(1):35-41</RefSource><PMID Version="1">9088804</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1997 Apr;48(4):1066-9</RefSource><PMID Version="1">9109901</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Physiol. 1997 Jul 15;502 ( Pt 2):375-85</RefSource><PMID Version="1">9263917</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 1998 Apr;43(4):521-6</RefSource><PMID Version="1">9546335</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 1998 Jul;19(1):65-8</RefSource><PMID Version="1">9682890</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Adv Neurol. 1998;78:335-9</RefSource><PMID Version="1">9750930</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 1999 Aug;46(2):176-82</RefSource><PMID Version="1">10443882</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2004 Dec;19(12):1506-10</RefSource><PMID Version="1">15390049</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Front Biosci. 2005;10:2373-96</RefSource><PMID Version="1">15970502</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016206" MajorTopicYN="N">Databases, Bibliographic</DescriptorName><QualifierName UI="Q000706" MajorTopicYN="N">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006429" MajorTopicYN="N">Hemiplegia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008958" MajorTopicYN="N">Models, Molecular</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009422" MajorTopicYN="N">Nervous System Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000254" MajorTopicYN="N">Sodium-Potassium-Exchanging ATPase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS611345</OtherID><OtherID Source="NLM">PMC4238309</OtherID><InvestigatorList><Investigator 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ValidYN="Y"><LastName>Casaer</LastName><ForeName>Paul</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Clapcote</LastName><ForeName>Steven J</ForeName><Initials>SJ</Initials></Investigator><Investigator ValidYN="Y"><LastName>De Grandis</LastName><ForeName>Elisa</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>de Vries</LastName><ForeName>Boukje</ForeName><Initials>B</Initials></Investigator><Investigator ValidYN="Y"><LastName>Di Michele</LastName><ForeName>Michela</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Dion</LastName><ForeName>Caroline</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Doummar</LastName><ForeName>Diane</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN="Y"><LastName>Einholm</LastName><ForeName>Anja P</ForeName><Initials>AP</Initials></Investigator><Investigator 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