X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (original) (raw)

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Acknowledgements

We thank the members of the families studied for their participation and members of the International Genetics of Learning Disability (IGOLD) study for their collaboration. This work was supported by grants from the Australian National Health and Medical Research Council Program Grant 400121 (I.E.S., S.F.B., J.C.M. and J.G.), Thyne-Reid Charitable Trusts (L.M.D.) and the Wellcome Trust. We also acknowledge support to J.F.G. from US National Institutes of Health grant GM061354 and D.H.G. from US National Institute of Mental Health U.S. grant R01 MH 64547. We are grateful for access to the tissues used in these studies from the Developmental Brain and Tissue Bank at University of Maryland funded by the US National Institutes of Health (National Institute of Child Health and Human Development contracts NO1-HD-4-3368 and NO1-HD-4-3383).

Author information

Author notes

  1. Leanne M Dibbens and Patrick S Tarpey: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Genetic Medicine, Level 9 Rieger Building, Women's and Children's Hospital, 72 King William Road, North Adelaide, 5006, South Australia, Australia
    Leanne M Dibbens, Kim Hynes, Marta A Bayly, Lucianne Vandeleur, Cheryl Shoubridge, Grant R Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Eric Haan, John C Mulley & Jozef Gécz
  2. School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, 5005, South Australia, Australia
    Leanne M Dibbens, Grant R Sutherland, John C Mulley & Jozef Gécz
  3. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, Cambridge, UK
    Patrick S Tarpey, Raffaella Smith, Sarah Edkins, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, Andrew Jenkinson, Rebecca Shepherd, P Andrew Futreal & Michael R Stratton
  4. School of Molecular & Biomedical Science, University of Adelaide, Adelaide, 5005, South Australia, Australia
    Kim Hynes, Edwina Sutton, Grant R Sutherland, Paul Thomas, Eric Haan, John C Mulley & Jozef Gécz
  5. Epilepsy Research Centre and Department of Medicine, University of Melbourne, Level 1 Neurosciences Building, Heidelberg Repatriation Hospital, Austin Health, Banksia Street, Heidelberg West, 3081, Victoria, Australia
    Ingrid E Scheffer, Samantha J Turner, Christopher P Derry & Samuel F Berkovic
  6. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia
    Ingrid E Scheffer
  7. Neurology Department and Semel Institute for Neuroscience and Behavior, Program in Neurogenetics and Neurobehavioral Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, 90095-1769, California, USA
    Jamee Bomar & Daniel H Geschwind
  8. Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, 02114, Massachusetts, USA
    James F Gusella, Amos D Korczyn & Hyung-Goo Kim
  9. Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, NRB 0330, Boston, 02115, Massachusetts, USA
    James F Gusella, Amos D Korczyn & Hyung-Goo Kim
  10. Department of Neurology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, 64239, Tel Aviv, Israel
    Zaid Afawi, Aziz Mazarib & Miriam Y Neufeld
  11. Department of Neurology, Schneider Children's Medical Center, 49202, Petaq Tikvah, Israel
    Sara Kivity
  12. Metabolic Neurogenetic Clinic, Wolfson Medical Center, 62 HaLohamim Street, 58100, Holon, Israel
    Dorit Lev & Tally Lerman-Sagie
  13. AstraZeneca, 1800 Concord Pike, Wilmington, 19803, Delaware, USA
    Stephen Ryan
  14. Northern Ireland Regional Genetics Service, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK
    Shane McKee

Authors

  1. Leanne M Dibbens
  2. Patrick S Tarpey
  3. Kim Hynes
  4. Marta A Bayly
  5. Ingrid E Scheffer
  6. Raffaella Smith
  7. Jamee Bomar
  8. Edwina Sutton
  9. Lucianne Vandeleur
  10. Cheryl Shoubridge
  11. Sarah Edkins
  12. Samantha J Turner
  13. Claire Stevens
  14. Sarah O'Meara
  15. Calli Tofts
  16. Syd Barthorpe
  17. Gemma Buck
  18. Jennifer Cole
  19. Kelly Halliday
  20. David Jones
  21. Rebecca Lee
  22. Mark Madison
  23. Tatiana Mironenko
  24. Jennifer Varian
  25. Sofie West
  26. Sara Widaa
  27. Paul Wray
  28. John Teague
  29. Ed Dicks
  30. Adam Butler
  31. Andrew Menzies
  32. Andrew Jenkinson
  33. Rebecca Shepherd
  34. James F Gusella
  35. Zaid Afawi
  36. Aziz Mazarib
  37. Miriam Y Neufeld
  38. Sara Kivity
  39. Dorit Lev
  40. Tally Lerman-Sagie
  41. Amos D Korczyn
  42. Christopher P Derry
  43. Grant R Sutherland
  44. Kathryn Friend
  45. Marie Shaw
  46. Mark Corbett
  47. Hyung-Goo Kim
  48. Daniel H Geschwind
  49. Paul Thomas
  50. Eric Haan
  51. Stephen Ryan
  52. Shane McKee
  53. Samuel F Berkovic
  54. P Andrew Futreal
  55. Michael R Stratton
  56. John C Mulley
  57. Jozef Gécz

Contributions

L.M.D. and P.S.T. contributed equally to this work. L.M.D. coordinated the project in concept and design, supervised molecular studies, managed collaborations, wrote the first draft of the manuscript and significantly edited successive manuscript drafts; P.S.T. supervised the X-chromosome gene sequencing and analysis; K. Hynes and M.A.B. carried out molecular studies. I.E.S., S.F.B., S.J.T., E.H., S.M., S.R., A. Mazarib, Z.A., M.Y.N., S.K., D.L., T.L.-S., A.D.K. and C.P.D. identified families and provided clinical information; R.S., S.E., C. Stevens, S.O., C.T., S.B., G.B., J.C., K. Halliday, D.J., T.M., J.V., S. West, S. Widaa, J.T., E.D., A.B., R.L., M.M., P.W., A. Menzies, A.J. and R.S. performed the X-chromosome gene sequencing and analysis of 737 genes. L.V. performed tissue culture work, J.B. and D.H.G. carried out and interpreted the human in situ hybridization analysis, K.F. performed and interpreted linkage analysis, M.S. and K. Hynes did X inactivation studies and their interpretation, and M.C. and C. Shoubridge contributed to the supervision of molecular and cell studies. H.-G.K. and J.F.G. contributed to segregation analysis. E.S. and P.T. performed and interpreted the mouse in situ hybridization analysis. I.E.S. and S.F.B. contributed to the project concept and coordinated families. E.H. and G.R.S. coordinated families. P.A.F. and M.R.S. coordinated the X-chromosome gene sequencing and analysis. J.C.M. and J.G. coordinated and supervised the project in concept and design, supervised molecular studies, managed collaborations and significantly edited successive drafts. All authors contributed to the discussion of the results and the preparation of successive manuscript drafts with the opportunity to comment critically and constructively.

Corresponding authors

Correspondence toLeanne M Dibbens or Jozef Gécz.

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Dibbens, L., Tarpey, P., Hynes, K. et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nat Genet 40, 776–781 (2008). https://doi.org/10.1038/ng.149

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