De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (original) (raw)

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Acknowledgements

We are deeply indebted to all the AHC-affected families for their participation in this study. We would like to thank the Alternating Hemiplegia of Childhood Foundation (AHCF) for their efforts in coordinating the collection of US samples and the facilitation of US research collaboration. We also would like to thank D. Poncelin (French Family Foundation) and R. Vavassori (Italian AHC Family Foundation) for facilitating the international collaboration.

We thank the Italian Patient Association for Alternating Hemiplegia (AISEA Onlus) for coordinating and funding the project I.B.AHC Biobank and Clinical Registry for Alternating Hemiplegia. Specifically, we thank M.T. Bassi and E. Tenderini for preparing all of the samples from AHC-affected individuals for analysis. Many thanks also to the Scientific Institute E. Medea, which hosts the I.B.AHC Biobank according to the I.B.AHC protocol.

We also thank the ENRAH for the SMEs Consortium, the ENRAH validation committee and all collaborating physicians for the data collection5. We are also grateful to the DNA and cell bank of Genethon for the processing of French blood samples.

The following individuals contributed next-generation sequenced control samples to this study: D. Attix, E. Behr, R. Brown, J. Burke, D. Daskalakis, V. Dixon, Z. Farfel, R. Gbadegesin, A. Holden, E. Holtzman, J. Hoover-Fong, C. Hulette, S. Kerns, D. Lancet, D. Levy, N. Liang, W. Lowe, P. Lugar, D. Marchuk, J. McEvoy, J. Milner, H. Oster, R. Ottman, S. Palmer, E. Pras, V. Shashi, N. Sobriera, D. Valle, K. Welsh-Bohmer and M. Winn, as well as the MURDOCK study community registry. Funding for the collection and sequencing of control samples was provided by the Center for Human Genome Variation, the Center for HIV/AIDS Vaccine Immunology and the Joseph and Kathleen Bryan Alzheimer's Disease Research Center under grants from the National Institutes of Health (NIH), including the National Institute of Allergy and Infectious Disease (UO1AIO67854); the National Institute on Aging (P30 AG028377); the National Institute of Neurological Disorders and Stroke (RC2NS070344 and 1RC2NS070342-01) and the National Institute of Mental Health (RC2MH089915).

This study was funded in part by grants from the AHCF (to K.J.S., S.P.R. and T.M.N.); the ENRAH for SMEs Consortium under the European Commission Sixth Framework Programme; the Institut National de la Santé et de la Recherche Médicale (to S.N. and B.F.); the Centre National de la Recherche Scientifique (to S.N. and B.F.); the University Pierre and Marie Curie (to S.N. and B.F.); the Association Française Contre les Myopathies (to S.N. and B.F.); the Association Française de l'Hémiplégie Alternante (to S.N., A.M.J.M.v.d.M. and B.d.V.); AISEA Onlus (to F.G. and G.N.); the Center for Human Genome Variation; the Wellcome Trust (084730 to S.M.S.); the National Center for Research Resources (UL1RR025764 to the University of Utah Center for Clinical and Translational Sciences; K.J.S.); the NIH (1T32HL105321-01 to C.H.); the University of Luxembourg Institute for Systems Biology Program (to C.H.) and the Center for Medical Systems Biology established in The Netherlands Genomics Initiative and The Netherlands Organisation for Scientific Research (project 050-060-409 to A.M.J.M.v.d.M. and M.D.F.). S.N. is a recipient of a Contrat d'Interface from Assistance Publique-Hôpitaux de Paris.

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Author notes

1. Erin L Heinzen, Kathryn J Swoboda, Yuki Hitomi and Tsveta Schyns: These authors contributed equally to this work.
2. Francis Crawley, Sanjay M Sisodiya, Mohamad A Mikati and David B Goldstein: These authors jointly directed this work.

Authors and Affiliations

1. Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA
   Erin L Heinzen, Yuki Hitomi, Nicole M Walley, Kevin V Shianna, Curtis E Gumbs, Latasha Little & David B Goldstein
2. Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA
   Erin L Heinzen & Kevin V Shianna
3. Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
   Kathryn J Swoboda, Matthew T Sweney & Tara M Newcomb
4. Department of Neurology, University of Utah, Salt Lake City, Utah, USA
   Kathryn J Swoboda, Louis Viollet, Sandra P Reyna & Kelley J Murphy
5. Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy
   Fiorella Gurrieri, F Danilo Tiziano, Fiorella Gurrieri, Giovanni Neri, Fiorella Gurrieri, Giovanni Neri, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro & Giovanni Neri
6. Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière UMR S975, Paris, France.,
   Sophie Nicole, Bertrand Fontaine, Sophie Nicole & Sophie Nicole
7. Institut National de la Santé et de la Recherche Médicale, U975, Paris, France.,
   Sophie Nicole, Bertrand Fontaine, Sophie Nicole & Sophie Nicole
8. Centre National de la Recherche Scientifique, UMR7225, Paris, France.,
   Sophie Nicole, Bertrand Fontaine, Sophie Nicole & Sophie Nicole
9. Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
   Boukje de Vries, Boukje de Vries, Stephany Koelewijn, Jessica Kamphorst, Marije Geilenkirchen, Arn van den Maagdenberg, Arn van den Maagdenberg & Arn M J M van den Maagdenberg
10. Département de Neurologie & Centre de Référence Canalopathies Musculaires, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier de la Pitié-Salpêtrière, Paris, France
    Bertrand Fontaine
11. Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia
    Sinéad Heavin & Ingrid E Scheffer
12. Sleep and Pediatric Neurophysiology Department, Epilepsy, Woman-Mother-Child Hospital, University Hospitals of Lyon (HCL), Lyon, France
    Eleni Panagiotakaki, Eleni Panagiotakaki, Alexis Arzimanoglou & Alexis Arzimanoglou
13. Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, USA
    Chad Huff & Lynn B Jorde
14. Department of Neurology, Comer Children's Hospital, University of Chicago, Chicago, Illinois, USA
    Kenneth Silver
15. Department of Pediatrics, Comer Children's Hospital, University of Chicago, Chicago, Illinois, USA
    Kenneth Silver
16. Department of Neurology, University of California, San Francisco, San Francisco, California, USA
    Louis J Ptáček
17. Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, California, USA
    Louis J Ptáček
18. Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands
    Joost Haan & Joost Haan
19. Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
    Nadine Pelzer, Laura Laan, Joost Haan, Michel Ferrari, Arn van den Maagdenberg, Laura Laan, Cacha Peeters-Scholte, Arn van den Maagdenberg, Joost Haan, Michel D Ferrari & Arn M J M van den Maagdenberg
20. Department of Paediatric Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia
    Ann M Bye
21. University of Sydney, Royal North Shore Hospital, St. Leonards, Sydney, New South Wales, Australia.,
    Geoffrey K Herkes
22. Northern Clinical School, University of Sydney, and Royal North Shore Hospital, Sydney, Australia
    Charlotte M Whitelaw
23. Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
    David Webb
24. The Children's University Hospital, Temple Street, Dublin, Ireland.,
    Bryan J Lynch & Mary D King
25. Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Peter Uldall
26. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia
    Ingrid E Scheffer
27. Florey Neuroscience Institutes, Melbourne, Australia
    Ingrid E Scheffer
28. Institut National de la Santé et de la Recherche Médicale, U1028, Centre de Recherche en Neurosciences de Lyon, Lyon, France
    Alexis Arzimanoglou & Alexis Arzimanoglou
29. Centre National de la Recherche Scientifique, UMR 5292, Lyon, France.,
    Alexis Arzimanoglou & Alexis Arzimanoglou
30. Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK
    Sanjay M Sisodiya
31. Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina, USA
    Mohamad A Mikati
32. Department of Neurobiology, Duke University, Durham, North Carolina, USA
    Mohamad A Mikati
33. Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, USA
    David B Goldstein
34. Clinical Neurophysiology Unit, Scientific Institute E. Medea, Lecco, Italy
    Claudio Zucca & Claudio Zucca
35. Laboratory of Molecular Biology, Scientific Institute E. Medea, Lecco, Italy
    Maria Teresa Bassi & Maria Teresa Bassi
36. Associazione Italiana per la Sindrome di Emiplegia Alternante (AISEA) Onlus, Lecco, Italy
    Filippo Franchini, Rosaria Vavassori & Rosaria Vavassori
37. Child Neurology Unit, Maggiore Hospital, Bologna, Italy
    Melania Giannotta, Giuseppe Gobbi, Melania Giannotta & Giuseppe Gobbi
38. Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy
    Tiziana Granata & Nardo Nardocci
39. Department of Child Neuropsychiatry, G. Gaslini Hospital, University of Genoa, Genoa, Italy
    Elisa De Grandis, Edvige Veneselli & Michela Stagnaro
40. Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy
    Federico Vigevano
41. Department of Child Neurology, Heidelberg University Hospital, Heidelberg, Germany
    Claudia Oechsler & Friedrich Ebinger
42. Neurosciences Unit, University College London Institute of Child Health, London, UK
    Miriam Ninan & Brian Neville
43. Department of Child Neurology, Sant Joan de Déu Hospital, Barcelona, Spain
    Carmen Fons & Jaume Campistol
44. Department of Neurology, Charles University, First Faculty of Medicine and Teaching Hospital, Prague, Czech Republic
    David Kemlink & Sona Nevsimalova
45. Department of Child Neurology, University Hospital Gasthuisberg, Leuven, Belgium
    Paul Casaer
46. Department of Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy
    Giorgio Casari & Filippo Martinelli Boneschi
47. Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy
    Giorgio Casari & Filippo Martinelli Boneschi
48. Department of Neurology and Psychiatry of Children and Adolescents, General Hospital, Klagenfurt, Austria
    Guenter Sange & Georg Spiel
49. The ENRAH Association, Brussels, Belgium
    Tsveta Schyns
50. Good Clinical Practice Alliance—Europe (GCPA), Kessel-Lo, Belgium
    Francis Crawley
51. Association Française de l'Hémiplégie Alternante (AFHA), St. Germain les Arpajon, France
    Dominique Poncelin

Authors

1. Erin L Heinzen
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2. Kathryn J Swoboda
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3. Yuki Hitomi
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4. Fiorella Gurrieri
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5. Sophie Nicole
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6. Boukje de Vries
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7. F Danilo Tiziano
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8. Bertrand Fontaine
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9. Nicole M Walley
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10. Sinéad Heavin
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11. Eleni Panagiotakaki
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12. Stefania Fiori
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13. Emanuela Abiusi
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14. Lorena Di Pietro
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15. Matthew T Sweney
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16. Tara M Newcomb
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17. Louis Viollet
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18. Chad Huff
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19. Lynn B Jorde
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20. Sandra P Reyna
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21. Kelley J Murphy
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22. Kevin V Shianna
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23. Curtis E Gumbs
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24. Latasha Little
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25. Kenneth Silver
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26. Louis J Ptáček
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27. Joost Haan
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28. Michel D Ferrari
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29. Ann M Bye
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30. Geoffrey K Herkes
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31. Charlotte M Whitelaw
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32. David Webb
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33. Bryan J Lynch
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34. Peter Uldall
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35. Mary D King
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36. Ingrid E Scheffer
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37. Giovanni Neri
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38. Alexis Arzimanoglou
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39. Arn M J M van den Maagdenberg
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40. Sanjay M Sisodiya
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41. Mohamad A Mikati
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42. David B Goldstein
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Consortia

European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium

• Sophie Nicole
• , Fiorella Gurrieri
• , Giovanni Neri
• , Boukje de Vries
• , Stephany Koelewijn
• , Jessica Kamphorst
• , Marije Geilenkirchen
• , Nadine Pelzer
• , Laura Laan
• , Joost Haan
• , Michel Ferrari
• & Arn van den Maagdenberg

Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium

• Claudio Zucca
• , Maria Teresa Bassi
• , Filippo Franchini
• , Rosaria Vavassori
• , Melania Giannotta
• , Giuseppe Gobbi
• , Tiziana Granata
• , Nardo Nardocci
• , Elisa De Grandis
• , Edvige Veneselli
• , Michela Stagnaro
• , Fiorella Gurrieri
• , Giovanni Neri
• & Federico Vigevano

European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium

• Eleni Panagiotakaki
• , Claudia Oechsler
• , Alexis Arzimanoglou
• , Sophie Nicole
• , Melania Giannotta
• , Giuseppe Gobbi
• , Miriam Ninan
• , Brian Neville
• , Friedrich Ebinger
• , Carmen Fons
• , Jaume Campistol
• , David Kemlink
• , Sona Nevsimalova
• , Laura Laan
• , Cacha Peeters-Scholte
• , Arn van den Maagdenberg
• , Paul Casaer
• , Giorgio Casari
• , Guenter Sange
• , Georg Spiel
• , Filippo Martinelli Boneschi
• , Claudio Zucca
• , Maria Teresa Bassi
• , Tsveta Schyns
• , Francis Crawley
• , Dominique Poncelin
• & Rosaria Vavassori

Contributions

E.L.H., Y.H., S.M.S., M.A.M. and D.B.G. conceived and designed the study. Genetic data were generated and analyzed by E.L.H., K.J.S., Y.H., F.G., S.N., B.d.V., F.D.T., S.F., E.A., L.D.P., C.H., L.B.J., K.V.S., C.E.G., L.L., G.N., A.A. A.M.J.M.v.d.M and D.B.G. DNA samples and phenotypic information for AHC patients were collected, compiled and analyzed by K.J.S., F.G., S.N., N.M.W., B.d.V., F.D.T., B.F., S.H., E.P., M.T.S., T.M.N., L.V., S.P.R., K.J.M., K.S., L.J.P., J.H., M.D.F., A.M.B., G.K.H., C.M.W., D.W., B.J.L., P.U., M.D.K., I.E.S., G.N., A.A., S.M.S., M.A.M., the European AHC Genetics Consortium, the I.B.AHC Consortium and the ENRAH for SMEs Consortium. E.L.H., A.M.J.M.v.d.M., S.M.S., M.A.M. and D.B.G. wrote the paper. All authors reviewed the compiled manuscript.

Corresponding authors

Correspondence toMohamad A Mikati or David B Goldstein.

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Competing interests

D.B.G., E.L.H., K.V.S., M.A.M. and Duke University are named on a patent application filed by Duke University on the basis of this work.

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A full list of members and affiliations appears at the end of this paper.

A full list of members and affiliations appears at the end of this paper.

A full list of members and affiliations appears at the end of this paper.

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Heinzen, E., Swoboda, K., Hitomi, Y. et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.Nat Genet 44, 1030–1034 (2012). https://doi.org/10.1038/ng.2358

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• Received: 16 April 2012
• Accepted: 28 June 2012
• Published: 29 July 2012
• Issue Date: September 2012
• DOI: https://doi.org/10.1038/ng.2358