Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
Identifieur interne : 000254 ( Pmc/Corpus ); précédent : 000253; suivant : 000255Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
Auteurs : Hsien-Yang Lee ; Yong Huang ; Nadine Bruneau ; Patrice Roll ; Elisha D. O. Roberson ; Mark Hermann ; Emily Quinn ; James Maas ; Robert Edwards ; Tetsuo Ashizawa ; Betul Baykan ; Kailash Bhatia ; Susan Bressman ; Michiko K. Bruno ; Ewout R. Brunt ; Roberto Caraballo ; Bernard Echenne ; Natalio Fejerman ; Steve Frucht ; Christina A. Gurnett ; Edouard Hirsch ; Henry Houlden ; Joseph Jankovic ; Wei-Ling Lee ; David R. Lynch ; Shehla Mohamed ; Ulrich Müller ; Mark P. Nespeca ; David Renner ; Jacques Rochette ; Gabrielle Rudolf ; Shinji Saiki ; Bing-Wen Soong ; Kathryn J. Swoboda ; Sam Tucker ; Nicholas Wood ; Michael Hanna ; Anne Bowcock ; Pierre Szepetowski ; Ying-Hui Fu ; Louis J. Ptá EkSource :
- Cell reports [ 2211-1247 ] ; 2011.
Abstract
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
Url:
DOI: 10.1016/j.celrep.2011.11.001
PubMed: 22832103
PubMed Central: 3334308
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PMC:3334308Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></affiliation></author><author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name><affiliation><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Roll, Patrice" sort="Roll, Patrice" uniqKey="Roll P" first="Patrice" last="Roll">Patrice Roll</name><affiliation><nlm:aff id="A4">INSERM UMR_S910, Université de la Méditerranée, Marseille, France</nlm:aff></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><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></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></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></affiliation></author><author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name><affiliation><nlm:aff id="A6">Department of Neurology, University of Florida, Gainesville, Florida 32611</nlm:aff></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></affiliation></author><author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A10">Department of Neurology, The Queen’s Medical Center, Honolulu, Hawaii, 96813</nlm:aff></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></affiliation></author><author><name sortKey="Caraballo, Roberto" sort="Caraballo, Roberto" uniqKey="Caraballo R" first="Roberto" last="Caraballo">Roberto Caraballo</name><affiliation><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation><nlm:aff id="A13">Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Fejerman, Natalio" sort="Fejerman, Natalio" uniqKey="Fejerman N" first="Natalio" last="Fejerman">Natalio Fejerman</name><affiliation><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff></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></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><nlm:aff id="A15">Department of Neurology, Washington University School of Medicine, St Louis, MO 63110</nlm:aff></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><nlm:aff id="A17">Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</nlm:aff></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><nlm:aff id="A18">National Neuroscience Institute, Singapore</nlm:aff></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></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></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation><nlm:aff id="A21">Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</nlm:aff></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></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></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></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff></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></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><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></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></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></affiliation></author><author><name sortKey="Wood, Nicholas" sort="Wood, Nicholas" uniqKey="Wood N" first="Nicholas" last="Wood">Nicholas Wood</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></affiliation></author><author><name sortKey="Hanna, Michael" sort="Hanna, Michael" uniqKey="Hanna M" first="Michael" last="Hanna">Michael Hanna</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></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><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff></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><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></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><idno type="wicri:Area/Pmc/Corpus">000254</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000254</idno></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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></affiliation></author><author><name sortKey="Bruneau, Nadine" sort="Bruneau, Nadine" uniqKey="Bruneau N" first="Nadine" last="Bruneau">Nadine Bruneau</name><affiliation><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Roll, Patrice" sort="Roll, Patrice" uniqKey="Roll P" first="Patrice" last="Roll">Patrice Roll</name><affiliation><nlm:aff id="A4">INSERM UMR_S910, Université de la Méditerranée, Marseille, France</nlm:aff></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><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></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></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></affiliation></author><author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name><affiliation><nlm:aff id="A6">Department of Neurology, University of Florida, Gainesville, Florida 32611</nlm:aff></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></affiliation></author><author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A10">Department of Neurology, The Queen’s Medical Center, Honolulu, Hawaii, 96813</nlm:aff></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></affiliation></author><author><name sortKey="Caraballo, Roberto" sort="Caraballo, Roberto" uniqKey="Caraballo R" first="Roberto" last="Caraballo">Roberto Caraballo</name><affiliation><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation><nlm:aff id="A13">Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Fejerman, Natalio" sort="Fejerman, Natalio" uniqKey="Fejerman N" first="Natalio" last="Fejerman">Natalio Fejerman</name><affiliation><nlm:aff id="A12">Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</nlm:aff></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></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><nlm:aff id="A15">Department of Neurology, Washington University School of Medicine, St Louis, MO 63110</nlm:aff></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><nlm:aff id="A17">Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</nlm:aff></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><nlm:aff id="A18">National Neuroscience Institute, Singapore</nlm:aff></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></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></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation><nlm:aff id="A21">Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</nlm:aff></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></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></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></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation><nlm:aff id="A16">Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</nlm:aff></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></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><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></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></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></affiliation></author><author><name sortKey="Wood, Nicholas" sort="Wood, Nicholas" uniqKey="Wood N" first="Nicholas" last="Wood">Nicholas Wood</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></affiliation></author><author><name sortKey="Hanna, Michael" sort="Hanna, Michael" uniqKey="Hanna M" first="Michael" last="Hanna">Michael Hanna</name><affiliation><nlm:aff id="A8">Institute of Neurology, University College London, London, WC1N 3BG</nlm:aff></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><nlm:aff id="A5">Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</nlm:aff></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><nlm:aff id="A3">Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</nlm:aff></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></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></affiliation><affiliation><nlm:aff id="A2">Howard Hughes Medical Institute, San Francisco, California, 94158</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101573691</journal-id><journal-id journal-id-type="pubmed-jr-id">39703</journal-id><journal-id journal-id-type="nlm-ta">Cell Rep</journal-id><journal-id journal-id-type="iso-abbrev">Cell Rep</journal-id><journal-title-group><journal-title>Cell reports</journal-title></journal-title-group><issn pub-type="epub">2211-1247</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22832103</article-id><article-id pub-id-type="pmc">3334308</article-id><article-id pub-id-type="doi">10.1016/j.celrep.2011.11.001</article-id><article-id pub-id-type="manuscript">NIHMS354946</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Hsien-Yang</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Huang</surname><given-names>Yong</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Bruneau</surname><given-names>Nadine</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Roll</surname><given-names>Patrice</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Roberson</surname><given-names>Elisha D.O.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Hermann</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Quinn</surname><given-names>Emily</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Maas</surname><given-names>James</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Edwards</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ashizawa</surname><given-names>Tetsuo</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Baykan</surname><given-names>Betul</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bhatia</surname><given-names>Kailash</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Bressman</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Bruno</surname><given-names>Michiko K.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Brunt</surname><given-names>Ewout R.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Caraballo</surname><given-names>Roberto</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Echenne</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Fejerman</surname><given-names>Natalio</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Frucht</surname><given-names>Steve</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Gurnett</surname><given-names>Christina A.</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Hirsch</surname><given-names>Edouard</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Houlden</surname><given-names>Henry</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Jankovic</surname><given-names>Joseph</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Wei-Ling</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>David R.</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Mohamed</surname><given-names>Shehla</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Müller</surname><given-names>Ulrich</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Nespeca</surname><given-names>Mark P.</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Renner</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Rochette</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Rudolf</surname><given-names>Gabrielle</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Saiki</surname><given-names>Shinji</given-names></name><xref ref-type="aff" rid="A25">25</xref><xref ref-type="author-notes" rid="FN1">26</xref></contrib><contrib contrib-type="author"><name><surname>Soong</surname><given-names>Bing-Wen</given-names></name><xref ref-type="aff" rid="A26">27</xref></contrib><contrib contrib-type="author"><name><surname>Swoboda</surname><given-names>Kathryn J.</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Tucker</surname><given-names>Sam</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Nicholas</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Hanna</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A27">28</xref></contrib><contrib contrib-type="author"><name><surname>Bowcock</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A27">28</xref></contrib><contrib contrib-type="author"><name><surname>Szepetowski</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A27">28</xref></contrib><contrib contrib-type="author"><name><surname>Fu</surname><given-names>Ying-Hui</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A27">28</xref></contrib><contrib contrib-type="author"><name><surname>Ptáček</surname><given-names>Louis J.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A27">28</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Neurology, UCSF, San Francisco, California, 94158</aff><aff id="A2"><label>2</label>Howard Hughes Medical Institute, San Francisco, California, 94158</aff><aff id="A3"><label>3</label>Institut de Neurobiologie de la Méditerranée, INMED. Inserm U901. Université de la Méditerranée. Marseille, France</aff><aff id="A4"><label>4</label>INSERM UMR_S910, Université de la Méditerranée, Marseille, France</aff><aff id="A5"><label>5</label>Division of Human Genetics, Department of Genetics, Washington University School of Medicine, Saint Louis, MO, 63110</aff><aff id="A6"><label>6</label>Department of Neurology, University of Florida, Gainesville, Florida 32611</aff><aff id="A7"><label>7</label>Department of Neurology, Istanbul University, Millet Cad 34390 Istanbul Turkey</aff><aff id="A8"><label>8</label>Institute of Neurology, University College London, London, WC1N 3BG</aff><aff id="A9"><label>9</label>Department of Neurology, Beth Israel Medical Center, New York, New York, 10003</aff><aff id="A10"><label>10</label>Department of Neurology, The Queen’s Medical Center, Honolulu, Hawaii, 96813</aff><aff id="A11"><label>11</label>Department of Neurology, University Medical Centre Groningen, University of Groningen, The Netherlands, 9713 GZ</aff><aff id="A12"><label>12</label>Department of Neurology, Juan P. Garrahan Pediatric Hospital, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina</aff><aff id="A13"><label>13</label>Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France</aff><aff id="A14"><label>14</label>Movement Disorders Center, Mount Sinai Medical Center, New York, 10029</aff><aff id="A15"><label>15</label>Department of Neurology, Washington University School of Medicine, St Louis, MO 63110</aff><aff id="A16"><label>16</label>Service de Neurologie. Hôpitaux Universitaires de Strasbourg, France</aff><aff id="A17"><label>17</label>Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</aff><aff id="A18"><label>18</label>National Neuroscience Institute, Singapore</aff><aff id="A19"><label>19</label>Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pa. USA, 19104</aff><aff id="A20"><label>20</label>Clinical Genetics, Guy’s Hospital, London, SE1 9RT</aff><aff id="A21"><label>21</label>Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany, D-35392</aff><aff id="A22"><label>22</label>Pediatric Neurology Division, Rady Children’s Hospital San Diego, UCSD Department of Neuroscience, San Diego, California, 92123</aff><aff id="A23"><label>23</label>Department of Neurology, University of Utah, Salt Lake City, Utah, 84132</aff><aff id="A24"><label>24</label>Service de Génétique-INSERM UMR 925 , Université de Picardie Jules Verne, Amiens 80036-France</aff><aff id="A25"><label>25</label>Department of Neurology, Kanazawa Medical University, Ishikawa, Japan, 920-0293</aff><aff id="A26"><label>27</label>Department of Neurology, National Yang-Ming University School of Medicine and the Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</aff><aff id="A27"><label>28</label>Senior Investigator of the International Paroxysmal Kinesigenic Dyskinesia/Infantile Convulsions Collaborative Working Group</aff><author-notes><fn fn-type="present-address" id="FN1"><label>26</label><p id="P1">Present Address: Department of Neurology, Juntendo University School of Medicine, Tokyo 113-8421,Japan</p></fn><corresp id="CR1"><label>*</label>Correspondence to: <email>ying-hui.fu@ucsf.edu</email> or <email>ljp@ucsf.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>2</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>15</day><month>12</month><year>2011</year></pub-date><pub-date pub-type="ppub"><day>26</day><month>1</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>25</day><month>4</month><year>2012</year></pub-date><volume>1</volume><issue>1</issue><fpage>2</fpage><lpage>12</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.celrep.2011.11.001</pmc-comment>
<permissions><copyright-statement>Crown Copyright © 2011 Published by Elsevier Inc. All rights reserved.</copyright-statement><copyright-year>2011</copyright-year></permissions><abstract><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></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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