Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

  1. Lydie Burglen
  2. Evelien Van Hoeymissen
  3. Leila Qebibo
  4. Magalie Barth
  5. Newell Belnap
  6. Felix Boschann
  7. Christel Depienne
  8. Katrien De Clercq
  9. Andrew GL Douglas
  10. Mark P Fitzgerald
  11. Nicola Foulds
  12. Catherine Garel
  13. Ingo Helbig
  14. Katharina Held
  15. Denise Horn
  16. Annelies Janssen
  17. Angela M Kaindl
  18. Vinodh Narayanan
  19. Christina Pragner
  20. Mailys Rupin
  21. Alexandra Afenjar
  22. Siyuan Zhao
  23. Vincent Th Ramaekers
  24. Sarah M Ruggiero
  25. Simon Thomas
  26. Stéphanie Valence
  27. Lionel Van Maldergem
  28. Tibor Rohacs
  29. Diana Rodriguez
  30. David Dyment
  31. Thomas Voets  Is a corresponding author
  32. Joris Vriens  Is a corresponding author
  1. INSERM UMR 1163, France
  2. KU Leuven, Belgium
  3. Hôpitaux Universitaires Paris-Ouest, France
  4. Centre Hospitalier Universitaire d'Angers, France
  5. Translational Genomics Research Institute, United States
  6. Charité - Universitäts medizin Berlin, Germany
  7. Essen University Hospital, United States
  8. University Hospital Southampton NHS Foundation Trust, United Kingdom
  9. Children's Hospital of Philadelphia, United States
  10. Charité - Universitätsmedizin Berlin, Germany
  11. Rutgers, The State University of New Jersey, United States
  12. University of Liège, Belgium
  13. Salisbury District Hospital, United Kingdom
  14. Centre Hospitalier Universitaire de Besançon, France
  15. University of Ottawa, Canada
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  1. Lydie Burglen
  2. Evelien Van Hoeymissen
  3. Leila Qebibo
  4. Magalie Barth
  5. Newell Belnap
  6. Felix Boschann
  7. Christel Depienne
  8. Katrien De Clercq
  9. Andrew GL Douglas
  10. Mark P Fitzgerald
  11. Nicola Foulds
  12. Catherine Garel
  13. Ingo Helbig
  14. Katharina Held
  15. Denise Horn
  16. Annelies Janssen
  17. Angela M Kaindl
  18. Vinodh Narayanan
  19. Christina Pragner
  20. Mailys Rupin
  21. Alexandra Afenjar
  22. Siyuan Zhao
  23. Vincent Th Ramaekers
  24. Sarah M Ruggiero
  25. Simon Thomas
  26. Stéphanie Valence
  27. Lionel Van Maldergem
  28. Tibor Rohacs
  29. Diana Rodriguez
  30. David Dyment
  31. Thomas Voets
  32. Joris Vriens
(2023)
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
eLife 12:e81032.
https://doi.org/10.7554/eLife.81032