De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Identifieur interne : 005514 ( Main/Exploration ); précédent : 005513; suivant : 005515De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Auteurs : Erin L. Heinzen [États-Unis] ; Kathryn J. Swoboda [États-Unis] ; Yuki Hitomi [États-Unis] ; Fiorella Gurrieri [Italie] ; Sophie Nicole [France] ; Boukje De Vries [Pays-Bas] ; F. Danilo Tiziano [Italie] ; Bertrand Fontaine [France] ; Nicole M. Walley [États-Unis] ; Sinéad Heavin [Australie] ; Eleni Panagiotakaki [France] ; Stefania Fiori [Italie] ; Emanuela Abiusi [Italie] ; Lorena Di Pietro [Italie] ; Matthew T. Sweney [États-Unis] ; Tara M. Newcomb [États-Unis] ; Louis Viollet [États-Unis] ; Chad Huff [États-Unis] ; Lynn B. Jorde [États-Unis] ; Sandra P. Reyna [États-Unis] ; Kelley J. Murphy [États-Unis] ; Kevin V. Shianna [États-Unis] ; Curtis E. Gumbs [États-Unis] ; Latasha Little [États-Unis] ; Kenneth Silver [États-Unis] ; Louis J. Ptác Ek [États-Unis] ; Joost Haan [Pays-Bas] ; Michel D. Ferrari [Pays-Bas] ; Ann M. Bye [Australie] ; Geoffrey K. Herkes [Australie] ; Charlotte M. Whitelaw [Australie] ; David Webb [Irlande (pays)] ; Bryan J. Lynch [Irlande (pays)] ; Peter Uldall [Danemark] ; Mary D. King [Irlande (pays)] ; Ingrid E. Scheffer [Australie] ; Giovanni Neri [Italie] ; Alexis Arzimanoglou [France] ; Arn M. J. M. Van Den Maagdenberg [Pays-Bas] ; Sanjay M. Sisodiya ; Mohamad A. Mikati [États-Unis] ; David B. Goldstein [États-Unis]Source :
- Nature genetics [ 1061-4036 ] ; 2012.
Abstract
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations. AHC is usually a sporadic disorder with unknown etiology. Using exome sequencing of seven patients with AHC, and their unaffected parents, we identified
Url:
DOI: 10.1038/ng.2358
PubMed: 22842232
PubMed Central: 3442240
Affiliations:
- Australie, Danemark, France, Irlande (pays), Italie, Pays-Bas, États-Unis
- Auvergne-Rhône-Alpes, Californie, Caroline du Nord, Hollande-Méridionale, Hovedstaden, Illinois, Latium, Nouvelle-Galles du Sud, Rhône-Alpes, Utah, Victoria (État), Île-de-France
- Copenhague, Leyde, Lyon, Melbourne, Paris, Rome, Sydney
- Université de Melbourne, Université de Sydney
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Le document en format XML
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Swoboda</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Hitomi, Yuki" sort="Hitomi, Yuki" uniqKey="Hitomi Y" first="Yuki" last="Hitomi">Yuki Hitomi</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. 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Danilo" last="Tiziano">F. Danilo Tiziano</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name><affiliation wicri:level="3"><nlm:aff id="A6">Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A8">Centre National de la Recherche Scientifique, UMR 7225, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 7225, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A10">Assistance Publique-Hôpitaux de Paris, Département de Neurologie & centre de référence “canalopathies musculaires”, Groupe Hospitalier de la Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Assistance Publique-Hôpitaux de Paris, Département de Neurologie & centre de référence “canalopathies musculaires”, Groupe Hospitalier de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Walley, Nicole M" sort="Walley, Nicole M" uniqKey="Walley N" first="Nicole M." last="Walley">Nicole M. Walley</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Heavin, Sinead" sort="Heavin, Sinead" uniqKey="Heavin S" first="Sinéad" last="Heavin">Sinéad Heavin</name><affiliation wicri:level="4"><nlm:aff id="A11">Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Health, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Panagiotakaki, Eleni" sort="Panagiotakaki, Eleni" uniqKey="Panagiotakaki E" first="Eleni" last="Panagiotakaki">Eleni Panagiotakaki</name><affiliation wicri:level="3"><nlm:aff id="A12">Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Fiori, Stefania" sort="Fiori, Stefania" uniqKey="Fiori S" first="Stefania" last="Fiori">Stefania Fiori</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Abiusi, Emanuela" sort="Abiusi, Emanuela" uniqKey="Abiusi E" first="Emanuela" last="Abiusi">Emanuela Abiusi</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Di Pietro, Lorena" sort="Di Pietro, Lorena" uniqKey="Di Pietro L" first="Lorena" last="Di Pietro">Lorena Di Pietro</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Sweney, Matthew T" sort="Sweney, Matthew T" uniqKey="Sweney M" first="Matthew T." last="Sweney">Matthew T. Sweney</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name><affiliation wicri:level="2"><nlm:aff id="A16">Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A16">Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Shianna, Kevin V" sort="Shianna, Kevin V" uniqKey="Shianna K" first="Kevin V." last="Shianna">Kevin V. Shianna</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Department of Medicine, Duke University School of Medicine, Durham, NC 27708 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Medicine, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Gumbs, Curtis E" sort="Gumbs, Curtis E" uniqKey="Gumbs C" first="Curtis E." last="Gumbs">Curtis E. Gumbs</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Little, Latasha" sort="Little, Latasha" uniqKey="Little L" first="Latasha" last="Little">Latasha Little</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><affiliation wicri:level="2"><nlm:aff id="A17">Department of Neurology, Comer Children’s Hospital, University of Chicago, Chicago, IL 60637 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Department of Neurology, Comer Children’s Hospital, University of Chicago, Chicago</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A18">Departments of Pediatrics, Comer Children’s Hospital, University of Chicago, Chicago, IL 60637 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Departments of Pediatrics, Comer Children’s Hospital, University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Ptac Ek, Louis J" sort="Ptac Ek, Louis J" uniqKey="Ptac Ek L" first="Louis J." last="Ptác Ek">Louis J. Ptác Ek</name><affiliation wicri:level="2"><nlm:aff id="A19">Department of Neurology, University of California, San Francisco, San Francisco, CA 94158 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Neurology, University of California, San Francisco, San Francisco</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A20">Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, CA 94158 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Howard Hughes Medical Institute, University of California, San Francisco, San Francisco</wicri:cityArea></affiliation></author><author><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Rijnland Hospital, Leiderdorp</wicri:regionArea><wicri:noRegion>Leiderdorp</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Ferrari, Michel D" sort="Ferrari, Michel D" uniqKey="Ferrari M" first="Michel D." last="Ferrari">Michel D. Ferrari</name><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name><affiliation wicri:level="1"><nlm:aff id="A23">Department of Paediatric Neurology, Sydney Children’s Hospital, Randwick, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatric Neurology, Sydney Children’s Hospital, Randwick, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Herkes, Geoffrey K" sort="Herkes, Geoffrey K" uniqKey="Herkes G" first="Geoffrey K." last="Herkes">Geoffrey K. Herkes</name><affiliation wicri:level="4"><nlm:aff id="A24">University of Sydney, RNSH, St Leonards, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>University of Sydney, RNSH, St Leonards, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Whitelaw, Charlotte M" sort="Whitelaw, Charlotte M" uniqKey="Whitelaw C" first="Charlotte M." last="Whitelaw">Charlotte M. Whitelaw</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Paediatrics, Royal Hobart Hospital, Hobart 7000, Tasmania, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, Royal Hobart Hospital, Hobart 7000, Tasmania</wicri:regionArea><wicri:noRegion>Tasmania</wicri:noRegion></affiliation></author><author><name sortKey="Webb, David" sort="Webb, David" uniqKey="Webb D" first="David" last="Webb">David Webb</name><affiliation wicri:level="1"><nlm:aff id="A26">Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>Our Lady’s Children’s Hospital, Crumlin, Dublin 12</wicri:regionArea><wicri:noRegion>Dublin 12</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Bryan J" sort="Lynch, Bryan J" uniqKey="Lynch B" first="Bryan J." last="Lynch">Bryan J. Lynch</name><affiliation wicri:level="1"><nlm:aff id="A27">The Childrens University Hospital Temple St, Dublin 1, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>The Childrens University Hospital Temple St, Dublin 1</wicri:regionArea><wicri:noRegion>Dublin 1</wicri:noRegion></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></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 wicri:level="1"><nlm:aff id="A27">The Childrens University Hospital Temple St, Dublin 1, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>The Childrens University Hospital Temple St, Dublin 1</wicri:regionArea><wicri:noRegion>Dublin 1</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><nlm:aff id="A11">Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Health, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A29">Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A30">Florey Neuroscience Institutes, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Florey Neuroscience Institutes, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><affiliation wicri:level="3"><nlm:aff id="A12">Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A31">Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292; Institut National de la Santé Et de la Recherche Médicale, U1028, Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292; Institut National de la Santé Et de la Recherche Médicale, U1028, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name><affiliation><nlm:aff id="A32">Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, Queen Square, London, WC1N 3BG UK.</nlm:aff><wicri:noCountry code="subfield">WC1N 3BG UK.</wicri:noCountry></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></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><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A35">Department of Neurobiology, Duke University, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Neurobiology, Duke University, Durham</wicri:cityArea></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="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A36">Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22842232</idno><idno type="pmc">3442240</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3442240</idno><idno type="RBID">PMC:3442240</idno><idno type="doi">10.1038/ng.2358</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002E16</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E16</idno><idno type="wicri:Area/Pmc/Curation">002C66</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C66</idno><idno type="wicri:Area/Pmc/Checkpoint">002109</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002109</idno><idno type="wicri:Area/Ncbi/Merge">000F14</idno><idno type="wicri:Area/Ncbi/Curation">000F14</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F14</idno><idno type="wicri:Area/Main/Merge">005780</idno><idno type="wicri:Area/Main/Curation">005514</idno><idno type="wicri:Area/Main/Exploration">005514</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>De novo</italic> mutations in <italic>ATP1A3</italic> cause alternating hemiplegia of childhood</title><author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L." last="Heinzen">Erin L. Heinzen</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Medicine, Duke University School of Medicine, Durham, NC 27708 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Medicine, Duke University School of Medicine, Durham</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Hitomi, Yuki" sort="Hitomi, Yuki" uniqKey="Hitomi Y" first="Yuki" last="Hitomi">Yuki Hitomi</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name><affiliation wicri:level="3"><nlm:aff id="A6">Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A8">Centre National de la Recherche Scientifique, UMR 7225, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 7225, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="De Vries, Boukje" sort="De Vries, Boukje" uniqKey="De Vries B" first="Boukje" last="De Vries">Boukje De Vries</name><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Tiziano, F Danilo" sort="Tiziano, F Danilo" uniqKey="Tiziano F" first="F. Danilo" last="Tiziano">F. Danilo Tiziano</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name><affiliation wicri:level="3"><nlm:aff id="A6">Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Université Pierre et Marie Curie Paris 06, Centre de Recherche de l’Institut du Cerveau et de la Moelle Epiniere, UMR_S975, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A8">Centre National de la Recherche Scientifique, UMR 7225, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 7225, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A10">Assistance Publique-Hôpitaux de Paris, Département de Neurologie & centre de référence “canalopathies musculaires”, Groupe Hospitalier de la Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Assistance Publique-Hôpitaux de Paris, Département de Neurologie & centre de référence “canalopathies musculaires”, Groupe Hospitalier de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Walley, Nicole M" sort="Walley, Nicole M" uniqKey="Walley N" first="Nicole M." last="Walley">Nicole M. Walley</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Heavin, Sinead" sort="Heavin, Sinead" uniqKey="Heavin S" first="Sinéad" last="Heavin">Sinéad Heavin</name><affiliation wicri:level="4"><nlm:aff id="A11">Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Health, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Panagiotakaki, Eleni" sort="Panagiotakaki, Eleni" uniqKey="Panagiotakaki E" first="Eleni" last="Panagiotakaki">Eleni Panagiotakaki</name><affiliation wicri:level="3"><nlm:aff id="A12">Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Fiori, Stefania" sort="Fiori, Stefania" uniqKey="Fiori S" first="Stefania" last="Fiori">Stefania Fiori</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Abiusi, Emanuela" sort="Abiusi, Emanuela" uniqKey="Abiusi E" first="Emanuela" last="Abiusi">Emanuela Abiusi</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Di Pietro, Lorena" sort="Di Pietro, Lorena" uniqKey="Di Pietro L" first="Lorena" last="Di Pietro">Lorena Di Pietro</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Sweney, Matthew T" sort="Sweney, Matthew T" uniqKey="Sweney M" first="Matthew T." last="Sweney">Matthew T. Sweney</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A3">Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Pediatrics, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name><affiliation wicri:level="2"><nlm:aff id="A16">Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A16">Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></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 wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of Utah, Salt Lake City, UT 84132 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Neurology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Shianna, Kevin V" sort="Shianna, Kevin V" uniqKey="Shianna K" first="Kevin V." last="Shianna">Kevin V. Shianna</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Department of Medicine, Duke University School of Medicine, Durham, NC 27708 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Medicine, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Gumbs, Curtis E" sort="Gumbs, Curtis E" uniqKey="Gumbs C" first="Curtis E." last="Gumbs">Curtis E. Gumbs</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Little, Latasha" sort="Little, Latasha" uniqKey="Little L" first="Latasha" last="Little">Latasha Little</name><affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><affiliation wicri:level="2"><nlm:aff id="A17">Department of Neurology, Comer Children’s Hospital, University of Chicago, Chicago, IL 60637 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Department of Neurology, Comer Children’s Hospital, University of Chicago, Chicago</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A18">Departments of Pediatrics, Comer Children’s Hospital, University of Chicago, Chicago, IL 60637 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Departments of Pediatrics, Comer Children’s Hospital, University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Ptac Ek, Louis J" sort="Ptac Ek, Louis J" uniqKey="Ptac Ek L" first="Louis J." last="Ptác Ek">Louis J. Ptác Ek</name><affiliation wicri:level="2"><nlm:aff id="A19">Department of Neurology, University of California, San Francisco, San Francisco, CA 94158 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Neurology, University of California, San Francisco, San Francisco</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A20">Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, CA 94158 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Howard Hughes Medical Institute, University of California, San Francisco, San Francisco</wicri:cityArea></affiliation></author><author><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Rijnland Hospital, Leiderdorp</wicri:regionArea><wicri:noRegion>Leiderdorp</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Ferrari, Michel D" sort="Ferrari, Michel D" uniqKey="Ferrari M" first="Michel D." last="Ferrari">Michel D. Ferrari</name><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name><affiliation wicri:level="1"><nlm:aff id="A23">Department of Paediatric Neurology, Sydney Children’s Hospital, Randwick, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatric Neurology, Sydney Children’s Hospital, Randwick, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Herkes, Geoffrey K" sort="Herkes, Geoffrey K" uniqKey="Herkes G" first="Geoffrey K." last="Herkes">Geoffrey K. Herkes</name><affiliation wicri:level="4"><nlm:aff id="A24">University of Sydney, RNSH, St Leonards, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>University of Sydney, RNSH, St Leonards, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Whitelaw, Charlotte M" sort="Whitelaw, Charlotte M" uniqKey="Whitelaw C" first="Charlotte M." last="Whitelaw">Charlotte M. Whitelaw</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Paediatrics, Royal Hobart Hospital, Hobart 7000, Tasmania, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, Royal Hobart Hospital, Hobart 7000, Tasmania</wicri:regionArea><wicri:noRegion>Tasmania</wicri:noRegion></affiliation></author><author><name sortKey="Webb, David" sort="Webb, David" uniqKey="Webb D" first="David" last="Webb">David Webb</name><affiliation wicri:level="1"><nlm:aff id="A26">Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>Our Lady’s Children’s Hospital, Crumlin, Dublin 12</wicri:regionArea><wicri:noRegion>Dublin 12</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Bryan J" sort="Lynch, Bryan J" uniqKey="Lynch B" first="Bryan J." last="Lynch">Bryan J. Lynch</name><affiliation wicri:level="1"><nlm:aff id="A27">The Childrens University Hospital Temple St, Dublin 1, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>The Childrens University Hospital Temple St, Dublin 1</wicri:regionArea><wicri:noRegion>Dublin 1</wicri:noRegion></affiliation></author><author><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></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 wicri:level="1"><nlm:aff id="A27">The Childrens University Hospital Temple St, Dublin 1, Ireland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Irlande (pays)</country><wicri:regionArea>The Childrens University Hospital Temple St, Dublin 1</wicri:regionArea><wicri:noRegion>Dublin 1</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><nlm:aff id="A11">Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Health, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A29">Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="A30">Florey Neuroscience Institutes, Melbourne, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Florey Neuroscience Institutes, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation wicri:level="3"><nlm:aff id="A5">Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><affiliation wicri:level="3"><nlm:aff id="A12">Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Dpt, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A31">Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292; Institut National de la Santé Et de la Recherche Médicale, U1028, Lyon, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292; Institut National de la Santé Et de la Recherche Médicale, U1028, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A22">Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name><affiliation><nlm:aff id="A32">Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, Queen Square, London, WC1N 3BG UK.</nlm:aff><wicri:noCountry code="subfield">WC1N 3BG UK.</wicri:noCountry></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></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><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A35">Department of Neurobiology, Duke University, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Neurobiology, Duke University, Durham</wicri:cityArea></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="2"><nlm:aff id="A1">Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Center for Human Genome Variation, Duke University School of Medicine, Durham</wicri:cityArea></affiliation><affiliation><nlm:aff id="A33">These authors jointly directed this work.</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A36">Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27708 USA.</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham</wicri:cityArea></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations. AHC is usually a sporadic disorder with unknown etiology. Using exome sequencing of seven patients with AHC, and their unaffected parents, we identified <italic>de novo</italic> nonsynonymous mutations in <italic>ATP1A3</italic> in all seven AHC patients. Subsequent sequence analysis of <italic>ATP1A3</italic> in 98 additional patients revealed that 78% of AHC cases have a likely causal <italic>ATP1A3</italic> mutation, including one inherited mutation in a familial case of AHC. Remarkably, six <italic>ATP1A3</italic> mutations explain the majority of patients, including one observed in 36 patients. Unlike <italic>ATP1A3</italic> mutations that cause rapid-onset-dystonia-parkinsonism, AHC-causing mutations revealed consistent reductions in ATPase activity without effects on protein expression. This work identifies <italic>de novo ATP1A3</italic> mutations as the primary cause of AHC, and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in this gene.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Verret, S" uniqKey="Verret S">S Verret</name></author><author><name sortKey="Steele, Jc" uniqKey="Steele J">JC Steele</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bourgeois, M" uniqKey="Bourgeois M">M Bourgeois</name></author><author><name sortKey="Aicardi, J" uniqKey="Aicardi J">J Aicardi</name></author><author><name sortKey="Goutieres, F" uniqKey="Goutieres F">F Goutieres</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mikati, Ma" uniqKey="Mikati M">MA Mikati</name></author><author><name sortKey="Kramer, U" uniqKey="Kramer U">U Kramer</name></author><author><name sortKey="Zupanc, Ml" uniqKey="Zupanc M">ML Zupanc</name></author><author><name sortKey="Shanahan, Rj" uniqKey="Shanahan R">RJ Shanahan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sweney, Mt" uniqKey="Sweney M">MT Sweney</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Panagiotakaki, E" uniqKey="Panagiotakaki E">E Panagiotakaki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rho, Jm" uniqKey="Rho J">JM Rho</name></author><author><name sortKey="Chugani, Ht" uniqKey="Chugani H">HT Chugani</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Neville, Bg" uniqKey="Neville B">BG Neville</name></author><author><name sortKey="Ninan, M" uniqKey="Ninan M">M Ninan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mikati, Ma" uniqKey="Mikati M">MA Mikati</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Swoboda, Kj" uniqKey="Swoboda K">KJ Swoboda</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bassi, Mt" uniqKey="Bassi M">MT Bassi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vanmolkot, Kr" uniqKey="Vanmolkot K">KR Vanmolkot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Fusco, M" uniqKey="De Fusco M">M De Fusco</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rebhan, M" uniqKey="Rebhan M">M Rebhan</name></author><author><name sortKey="Chalifa Caspi, V" uniqKey="Chalifa Caspi V">V Chalifa-Caspi</name></author><author><name sortKey="Prilusky, J" uniqKey="Prilusky J">J Prilusky</name></author><author><name sortKey="Lancet, D" uniqKey="Lancet D">D Lancet</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Carvalho Aguiar, P" uniqKey="De Carvalho Aguiar P">P de Carvalho 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sortKey="Shinoda, T" uniqKey="Shinoda T">T Shinoda</name></author><author><name sortKey="Cornelius, F" uniqKey="Cornelius F">F Cornelius</name></author><author><name sortKey="Toyoshima, C" uniqKey="Toyoshima C">C Toyoshima</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bellus, Ga" uniqKey="Bellus G">GA Bellus</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name></author><author><name sortKey="Youssoufian, H" uniqKey="Youssoufian H">H Youssoufian</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Clapcote, Sj" uniqKey="Clapcote S">SJ Clapcote</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stenson, Pd" uniqKey="Stenson P">PD Stenson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jain, E" uniqKey="Jain E">E 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Nord</li><li>Hollande-Méridionale</li><li>Hovedstaden</li><li>Illinois</li><li>Latium</li><li>Nouvelle-Galles du Sud</li><li>Rhône-Alpes</li><li>Utah</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Copenhague</li><li>Leyde</li><li>Lyon</li><li>Melbourne</li><li>Paris</li><li>Rome</li><li>Sydney</li></settlement><orgName><li>Université de Melbourne</li><li>Université de Sydney</li></orgName></list><tree><noCountry><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name></noCountry><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L." last="Heinzen">Erin L. Heinzen</name></region><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><name sortKey="Gumbs, Curtis E" sort="Gumbs, Curtis E" uniqKey="Gumbs C" first="Curtis E." last="Gumbs">Curtis E. Gumbs</name><name sortKey="Hitomi, Yuki" sort="Hitomi, Yuki" uniqKey="Hitomi Y" first="Yuki" last="Hitomi">Yuki Hitomi</name><name sortKey="Huff, Chad" sort="Huff, Chad" uniqKey="Huff C" first="Chad" last="Huff">Chad Huff</name><name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B." last="Jorde">Lynn B. Jorde</name><name sortKey="Little, Latasha" sort="Little, Latasha" uniqKey="Little L" first="Latasha" last="Little">Latasha Little</name><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A." last="Mikati">Mohamad A. Mikati</name><name sortKey="Murphy, Kelley J" sort="Murphy, Kelley J" uniqKey="Murphy K" first="Kelley J." last="Murphy">Kelley J. Murphy</name><name sortKey="Newcomb, Tara M" sort="Newcomb, Tara M" uniqKey="Newcomb T" first="Tara M." last="Newcomb">Tara M. Newcomb</name><name sortKey="Ptac Ek, Louis J" sort="Ptac Ek, Louis J" uniqKey="Ptac Ek L" first="Louis J." last="Ptác Ek">Louis J. Ptác Ek</name><name sortKey="Ptac Ek, Louis J" sort="Ptac Ek, Louis J" uniqKey="Ptac Ek L" first="Louis J." last="Ptác Ek">Louis J. Ptác Ek</name><name sortKey="Reyna, Sandra P" sort="Reyna, Sandra P" uniqKey="Reyna S" first="Sandra P." last="Reyna">Sandra P. Reyna</name><name sortKey="Shianna, Kevin V" sort="Shianna, Kevin V" uniqKey="Shianna K" first="Kevin V." last="Shianna">Kevin V. Shianna</name><name sortKey="Shianna, Kevin V" sort="Shianna, Kevin V" uniqKey="Shianna K" first="Kevin V." last="Shianna">Kevin V. Shianna</name><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><name sortKey="Silver, Kenneth" sort="Silver, Kenneth" uniqKey="Silver K" first="Kenneth" last="Silver">Kenneth Silver</name><name sortKey="Sweney, Matthew T" sort="Sweney, Matthew T" uniqKey="Sweney M" first="Matthew T." last="Sweney">Matthew T. Sweney</name><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name><name sortKey="Viollet, Louis" sort="Viollet, Louis" uniqKey="Viollet L" first="Louis" last="Viollet">Louis Viollet</name><name sortKey="Walley, Nicole M" sort="Walley, Nicole M" uniqKey="Walley N" first="Nicole M." last="Walley">Nicole M. Walley</name></country><country name="Italie"><region name="Latium"><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name></region><name sortKey="Abiusi, Emanuela" sort="Abiusi, Emanuela" uniqKey="Abiusi E" first="Emanuela" last="Abiusi">Emanuela Abiusi</name><name sortKey="Di Pietro, Lorena" sort="Di Pietro, Lorena" uniqKey="Di Pietro L" first="Lorena" last="Di Pietro">Lorena Di Pietro</name><name sortKey="Fiori, Stefania" sort="Fiori, Stefania" uniqKey="Fiori S" first="Stefania" last="Fiori">Stefania Fiori</name><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><name sortKey="Tiziano, F Danilo" sort="Tiziano, F Danilo" uniqKey="Tiziano F" first="F. Danilo" last="Tiziano">F. Danilo Tiziano</name></country><country name="France"><region name="Île-de-France"><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name></region><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name><name sortKey="Fontaine, Bertrand" sort="Fontaine, Bertrand" uniqKey="Fontaine B" first="Bertrand" last="Fontaine">Bertrand Fontaine</name><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name><name sortKey="Panagiotakaki, Eleni" sort="Panagiotakaki, Eleni" uniqKey="Panagiotakaki E" first="Eleni" last="Panagiotakaki">Eleni Panagiotakaki</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="De Vries, Boukje" sort="De Vries, Boukje" uniqKey="De Vries B" first="Boukje" last="De Vries">Boukje De Vries</name></region><name sortKey="Ferrari, Michel D" sort="Ferrari, Michel D" uniqKey="Ferrari M" first="Michel D." last="Ferrari">Michel D. Ferrari</name><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name><name sortKey="Haan, Joost" sort="Haan, Joost" uniqKey="Haan J" first="Joost" last="Haan">Joost Haan</name><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Heavin, Sinead" sort="Heavin, Sinead" uniqKey="Heavin S" first="Sinéad" last="Heavin">Sinéad Heavin</name></region><name sortKey="Bye, Ann M" sort="Bye, Ann M" uniqKey="Bye A" first="Ann M." last="Bye">Ann M. Bye</name><name sortKey="Herkes, Geoffrey K" sort="Herkes, Geoffrey K" uniqKey="Herkes G" first="Geoffrey K." last="Herkes">Geoffrey K. Herkes</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Whitelaw, Charlotte M" sort="Whitelaw, Charlotte M" uniqKey="Whitelaw C" first="Charlotte M." last="Whitelaw">Charlotte M. Whitelaw</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Webb, David" sort="Webb, David" uniqKey="Webb D" first="David" last="Webb">David Webb</name></noRegion><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><name sortKey="Lynch, Bryan J" sort="Lynch, Bryan J" uniqKey="Lynch B" first="Bryan J." last="Lynch">Bryan J. Lynch</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Uldall, Peter" sort="Uldall, Peter" uniqKey="Uldall P" first="Peter" last="Uldall">Peter Uldall</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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