DanceTherParkinsonV1, Main, Exploration, bibRecord, 000202

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Identifieur interne : 000202 ( Main/Exploration ); précédent : 000201; suivant : 000203

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Auteurs : Hsien-Yang Lee ; Yong Huang ; Nadine Bruneau [France] ; Patrice Roll [France] ; Elisha D. O. Roberson [États-Unis] ; Mark Hermann ; Emily Quinn ; James Maas ; Robert Edwards ; Tetsuo Ashizawa [États-Unis] ; Betul Baykan ; Kailash Bhatia [Royaume-Uni] ; Susan Bressman ; Michiko K. Bruno ; Ewout R. Brunt ; Roberto Caraballo [Argentine] ; Bernard Echenne [France] ; Natalio Fejerman [Argentine] ; Steve Frucht ; Christina A. Gurnett [États-Unis] ; Edouard Hirsch [France] ; Henry Houlden [Royaume-Uni] ; Joseph Jankovic [États-Unis] ; Wei-Ling Lee [Singapour] ; David R. Lynch ; Shehla Mohamed ; Ulrich Müller [Allemagne] ; Mark P. Nespeca ; David Renner ; Jacques Rochette ; Gabrielle Rudolf [France] ; Shinji Saiki ; Bing-Wen Soong [Taïwan] ; Kathryn J. Swoboda ; Sam Tucker ; Nicholas Wood [Royaume-Uni] ; Michael Hanna [Royaume-Uni] ; Anne Bowcock [États-Unis] ; Pierre Szepetowski [France] ; Ying-Hui Fu ; Louis J. Ptá Ek

Source :

Cell reports [ 2211-1247 ] ; 2011.

RBID : PMC:3334308

Abstract

Summary

Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the PRRT2 gene in the vast majority (24/25) of well characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. The PRRT2 gene encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture and mutants associated with PKD/IC lead to dramatically reduced PRRT2 protein levels leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334308

DOI: 10.1016/j.celrep.2011.11.001
PubMed: 22832103
PubMed Central: 3334308

Affiliations:

Le document en format XML

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<author><name sortKey="Lee, Hsien Yang" sort="Lee, Hsien Yang" uniqKey="Lee H" first="Hsien-Yang" last="Lee">Hsien-Yang Lee</name>
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<author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name>
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<author><name sortKey="Quinn, Emily" sort="Quinn, Emily" uniqKey="Quinn E" first="Emily" last="Quinn">Emily Quinn</name>
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<author><name sortKey="Maas, James" sort="Maas, James" uniqKey="Maas J" first="James" last="Maas">James Maas</name>
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<author><name sortKey="Edwards, Robert" sort="Edwards, Robert" uniqKey="Edwards R" first="Robert" last="Edwards">Robert Edwards</name>
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<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
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<wicri:cityArea>Department of Neurology, University of Florida, Gainesville</wicri:cityArea>
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<author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name>
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<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
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<author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name>
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<author><name sortKey="Bruno, Michiko K" sort="Bruno, Michiko K" uniqKey="Bruno M" first="Michiko K." last="Bruno">Michiko K. Bruno</name>
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<affiliation><nlm:aff id="A10">Department of Neurology, The Queen’s Medical Center, Honolulu, Hawaii, 96813</nlm:aff>
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<author><name sortKey="Brunt, Ewout R" sort="Brunt, Ewout R" uniqKey="Brunt E" first="Ewout R." last="Brunt">Ewout R. Brunt</name>
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</affiliation>
</author>
<author><name sortKey="Caraballo, Roberto" sort="Caraballo, Roberto" uniqKey="Caraballo R" first="Roberto" last="Caraballo">Roberto Caraballo</name>
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<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name>
<affiliation wicri:level="3"><nlm:aff id="A13">Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier</wicri:regionArea>
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<settlement type="city">Montpellier</settlement>
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</affiliation>
</author>
<author><name sortKey="Fejerman, Natalio" sort="Fejerman, Natalio" uniqKey="Fejerman N" first="Natalio" last="Fejerman">Natalio Fejerman</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frucht, Steve" sort="Frucht, Steve" uniqKey="Frucht S" first="Steve" last="Frucht">Steve Frucht</name>
<affiliation><nlm:aff id="A14">Movement Disorders Center, Mount Sinai Medical Center, New York, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Gurnett, Christina A" sort="Gurnett, Christina A" uniqKey="Gurnett C" first="Christina A." last="Gurnett">Christina A. Gurnett</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Neurology, Washington University School of Medicine, St Louis, MO 63110</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Missouri (État)</region>
</placeName>
<wicri:cityArea>Department of Neurology, Washington University School of Medicine, St Louis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie. Hôpitaux Universitaires de Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><nlm:aff id="A17">Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Lee, Wei Ling" sort="Lee, Wei Ling" uniqKey="Lee W" first="Wei-Ling" last="Lee">Wei-Ling Lee</name>
<affiliation wicri:level="1"><nlm:aff id="A18">National Neuroscience Institute, Singapore</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>National Neuroscience Institute</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R." last="Lynch">David R. Lynch</name>
<affiliation><nlm:aff id="A19">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa. USA, 19104</nlm:aff>
<wicri:noCountry code="subfield">19104</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mohamed, Shehla" sort="Mohamed, Shehla" uniqKey="Mohamed S" first="Shehla" last="Mohamed">Shehla Mohamed</name>
<affiliation><nlm:aff id="A20">Clinical Genetics, Guy’s Hospital, London, SE1 9RT</nlm:aff>
<wicri:noCountry code="subfield">SE1 9RT</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<affiliation wicri:level="1"><nlm:aff id="A21">Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</nlm:aff>
<country wicri:rule="zip">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</wicri:regionArea>
<wicri:noRegion>35392</wicri:noRegion>
<wicri:noRegion>35392</wicri:noRegion>
<wicri:noRegion>D-35392</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nespeca, Mark P" sort="Nespeca, Mark P" uniqKey="Nespeca M" first="Mark P." last="Nespeca">Mark P. Nespeca</name>
<affiliation><nlm:aff id="A22">Pediatric Neurology Division, Rady Children’s Hospital San Diego, UCSD Department of Neuroscience, San Diego, California, 92123</nlm:aff>
<wicri:noCountry code="subfield">92123</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Renner, David" sort="Renner, David" uniqKey="Renner D" first="David" last="Renner">David Renner</name>
<affiliation><nlm:aff id="A23">Department of Neurology, University of Utah, Salt Lake City, Utah, 84132</nlm:aff>
<wicri:noCountry code="subfield">84132</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rochette, Jacques" sort="Rochette, Jacques" uniqKey="Rochette J" first="Jacques" last="Rochette">Jacques Rochette</name>
<affiliation><nlm:aff id="A24">Service de Génétique-INSERM UMR 925 , Université de Picardie Jules Verne, Amiens 80036-France</nlm:aff>
<wicri:noCountry code="subfield">Amiens 80036-France</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie. Hôpitaux Universitaires de Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Saiki, Shinji" sort="Saiki, Shinji" uniqKey="Saiki S" first="Shinji" last="Saiki">Shinji Saiki</name>
<affiliation><nlm:aff id="A25">Department of Neurology, Kanazawa Medical University, Ishikawa, Japan, 920-0293</nlm:aff>
<wicri:noCountry code="subfield">920-0293</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, National Yang-Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Yang-Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name>
<affiliation><nlm:aff id="A23">Department of Neurology, University of Utah, Salt Lake City, Utah, 84132</nlm:aff>
<wicri:noCountry code="subfield">84132</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Tucker, Sam" sort="Tucker, Sam" uniqKey="Tucker S" first="Sam" last="Tucker">Sam Tucker</name>
<affiliation><nlm:aff id="A19">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa. USA, 19104</nlm:aff>
<wicri:noCountry code="subfield">19104</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas" sort="Wood, Nicholas" uniqKey="Wood N" first="Nicholas" last="Wood">Nicholas Wood</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hanna, Michael" sort="Hanna, Michael" uniqKey="Hanna M" first="Michael" last="Hanna">Michael Hanna</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bowcock, Anne" sort="Bowcock, Anne" uniqKey="Bowcock A" first="Anne" last="Bowcock">Anne Bowcock</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Szepetowski, Pierre" sort="Szepetowski, Pierre" uniqKey="Szepetowski P" first="Pierre" last="Szepetowski">Pierre Szepetowski</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:regionArea>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fu, Ying Hui" sort="Fu, Ying Hui" uniqKey="Fu Y" first="Ying-Hui" last="Fu">Ying-Hui Fu</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pta Ek, Louis J" sort="Pta Ek, Louis J" uniqKey="Pta Ek L" first="Louis J." last="Ptá Ek">Louis J. Ptá Ek</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22832103</idno>
<idno type="pmc">3334308</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334308</idno>
<idno type="RBID">PMC:3334308</idno>
<idno type="doi">10.1016/j.celrep.2011.11.001</idno>
<date when="2011">2011</date>
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</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions</title>
<author><name sortKey="Lee, Hsien Yang" sort="Lee, Hsien Yang" uniqKey="Lee H" first="Hsien-Yang" last="Lee">Hsien-Yang Lee</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Huang, Yong" sort="Huang, Yong" uniqKey="Huang Y" first="Yong" last="Huang">Yong Huang</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:regionArea>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roll, Patrice" sort="Roll, Patrice" uniqKey="Roll P" first="Patrice" last="Roll">Patrice Roll</name>
<affiliation wicri:level="4"><nlm:aff id="A4">INSERM UMR_S910, Université de la Méditerranée, Marseille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR_S910, Université de la Méditerranée, Marseille</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
<orgName type="university">Université de la Méditerranée</orgName>
</affiliation>
</author>
<author><name sortKey="Roberson, Elisha D O" sort="Roberson, Elisha D O" uniqKey="Roberson E" first="Elisha D. O." last="Roberson">Elisha D. O. Roberson</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hermann, Mark" sort="Hermann, Mark" uniqKey="Hermann M" first="Mark" last="Hermann">Mark Hermann</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Quinn, Emily" sort="Quinn, Emily" uniqKey="Quinn E" first="Emily" last="Quinn">Emily Quinn</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Maas, James" sort="Maas, James" uniqKey="Maas J" first="James" last="Maas">James Maas</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Edwards, Robert" sort="Edwards, Robert" uniqKey="Edwards R" first="Robert" last="Edwards">Robert Edwards</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="2"><nlm:aff id="A6">Department of Neurology, University of Florida, Gainesville, Florida 32611</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Florida, Gainesville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name>
<affiliation><nlm:aff id="A7">Department of Neurology, Istanbul University, Millet Cad 34390 Istanbul Turkey</nlm:aff>
<wicri:noCountry code="subfield">Millet Cad 34390 Istanbul Turkey</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name>
<affiliation><nlm:aff id="A9">Department of Neurology, Beth Israel Medical Center, New York, New York, 10003</nlm:aff>
<wicri:noCountry code="subfield">10003</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bruno, Michiko K" sort="Bruno, Michiko K" uniqKey="Bruno M" first="Michiko K." last="Bruno">Michiko K. Bruno</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A10">Department of Neurology, The Queen’s Medical Center, Honolulu, Hawaii, 96813</nlm:aff>
<wicri:noCountry code="subfield">96813</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Brunt, Ewout R" sort="Brunt, Ewout R" uniqKey="Brunt E" first="Ewout R." last="Brunt">Ewout R. Brunt</name>
<affiliation><nlm:aff id="A11">Department of Neurology, University Medical Centre Groningen, University of Groningen, The Netherlands, 9713 GZ</nlm:aff>
<wicri:noCountry code="subfield">9713 GZ</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Caraballo, Roberto" sort="Caraballo, Roberto" uniqKey="Caraballo R" first="Roberto" last="Caraballo">Roberto Caraballo</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name>
<affiliation wicri:level="3"><nlm:aff id="A13">Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fejerman, Natalio" sort="Fejerman, Natalio" uniqKey="Fejerman N" first="Natalio" last="Fejerman">Natalio Fejerman</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frucht, Steve" sort="Frucht, Steve" uniqKey="Frucht S" first="Steve" last="Frucht">Steve Frucht</name>
<affiliation><nlm:aff id="A14">Movement Disorders Center, Mount Sinai Medical Center, New York, 10029</nlm:aff>
<wicri:noCountry code="subfield">10029</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Gurnett, Christina A" sort="Gurnett, Christina A" uniqKey="Gurnett C" first="Christina A." last="Gurnett">Christina A. Gurnett</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Neurology, Washington University School of Medicine, St Louis, MO 63110</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Missouri (État)</region>
</placeName>
<wicri:cityArea>Department of Neurology, Washington University School of Medicine, St Louis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie. Hôpitaux Universitaires de Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><nlm:aff id="A17">Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Lee, Wei Ling" sort="Lee, Wei Ling" uniqKey="Lee W" first="Wei-Ling" last="Lee">Wei-Ling Lee</name>
<affiliation wicri:level="1"><nlm:aff id="A18">National Neuroscience Institute, Singapore</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>National Neuroscience Institute</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R." last="Lynch">David R. Lynch</name>
<affiliation><nlm:aff id="A19">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa. USA, 19104</nlm:aff>
<wicri:noCountry code="subfield">19104</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mohamed, Shehla" sort="Mohamed, Shehla" uniqKey="Mohamed S" first="Shehla" last="Mohamed">Shehla Mohamed</name>
<affiliation><nlm:aff id="A20">Clinical Genetics, Guy’s Hospital, London, SE1 9RT</nlm:aff>
<wicri:noCountry code="subfield">SE1 9RT</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<affiliation wicri:level="1"><nlm:aff id="A21">Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</nlm:aff>
<country wicri:rule="zip">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</wicri:regionArea>
<wicri:noRegion>35392</wicri:noRegion>
<wicri:noRegion>35392</wicri:noRegion>
<wicri:noRegion>D-35392</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nespeca, Mark P" sort="Nespeca, Mark P" uniqKey="Nespeca M" first="Mark P." last="Nespeca">Mark P. Nespeca</name>
<affiliation><nlm:aff id="A22">Pediatric Neurology Division, Rady Children’s Hospital San Diego, UCSD Department of Neuroscience, San Diego, California, 92123</nlm:aff>
<wicri:noCountry code="subfield">92123</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Renner, David" sort="Renner, David" uniqKey="Renner D" first="David" last="Renner">David Renner</name>
<affiliation><nlm:aff id="A23">Department of Neurology, University of Utah, Salt Lake City, Utah, 84132</nlm:aff>
<wicri:noCountry code="subfield">84132</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rochette, Jacques" sort="Rochette, Jacques" uniqKey="Rochette J" first="Jacques" last="Rochette">Jacques Rochette</name>
<affiliation><nlm:aff id="A24">Service de Génétique-INSERM UMR 925 , Université de Picardie Jules Verne, Amiens 80036-France</nlm:aff>
<wicri:noCountry code="subfield">Amiens 80036-France</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie. Hôpitaux Universitaires de Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Saiki, Shinji" sort="Saiki, Shinji" uniqKey="Saiki S" first="Shinji" last="Saiki">Shinji Saiki</name>
<affiliation><nlm:aff id="A25">Department of Neurology, Kanazawa Medical University, Ishikawa, Japan, 920-0293</nlm:aff>
<wicri:noCountry code="subfield">920-0293</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Department of Neurology, National Yang-Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Yang-Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J." last="Swoboda">Kathryn J. Swoboda</name>
<affiliation><nlm:aff id="A23">Department of Neurology, University of Utah, Salt Lake City, Utah, 84132</nlm:aff>
<wicri:noCountry code="subfield">84132</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Tucker, Sam" sort="Tucker, Sam" uniqKey="Tucker S" first="Sam" last="Tucker">Sam Tucker</name>
<affiliation><nlm:aff id="A19">Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa. USA, 19104</nlm:aff>
<wicri:noCountry code="subfield">19104</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas" sort="Wood, Nicholas" uniqKey="Wood N" first="Nicholas" last="Wood">Nicholas Wood</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hanna, Michael" sort="Hanna, Michael" uniqKey="Hanna M" first="Michael" last="Hanna">Michael Hanna</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff>
<orgName type="university">University College de Londres</orgName>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bowcock, Anne" sort="Bowcock, Anne" uniqKey="Bowcock A" first="Anne" last="Bowcock">Anne Bowcock</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Szepetowski, Pierre" sort="Szepetowski, Pierre" uniqKey="Szepetowski P" first="Pierre" last="Szepetowski">Pierre Szepetowski</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:regionArea>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
<wicri:noRegion>INMED. Inserm U901. Université de la Méditerranée. Marseille</wicri:noRegion>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fu, Ying Hui" sort="Fu, Ying Hui" uniqKey="Fu Y" first="Ying-Hui" last="Fu">Ying-Hui Fu</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pta Ek, Louis J" sort="Pta Ek, Louis J" uniqKey="Pta Ek L" first="Louis J." last="Ptá Ek">Louis J. Ptá Ek</name>
<affiliation><nlm:aff id="A1">Department of Neurology, UCSF, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff>
<wicri:noCountry code="subfield">94158</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A27">Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Cell reports</title>
<idno type="eISSN">2211-1247</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><title>Summary</title>
<p id="P2">Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the <italic>PRRT2</italic>
 gene in the vast majority (24/25) of well characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. The <italic>PRRT2</italic>
 gene encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture and mutants associated with PKD/IC lead to dramatically reduced PRRT2 protein levels leading ultimately to neuronal hyperexcitability that manifests <italic>in vivo</italic>
 as PKD/IC.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Argentine</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Singapour</li>
<li>Taïwan</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Floride</li>
<li>Grand Londres</li>
<li>Languedoc-Roussillon</li>
<li>Missouri (État)</li>
<li>Occitanie (région administrative)</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Texas</li>
</region>
<settlement><li>Houston</li>
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Danse-thérapie et Parkinson

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

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Abstract

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	Danse-thérapie et Parkinson
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