Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

  1. Madeo, M. 1
  2. Stewart, M. 2
  3. Sun, Y. 3
  4. Sahir, N. 1
  5. Wiethoff, S. 4
  6. Chandrasekar, I. 1
  7. Yarrow, A. 1
  8. Rosenfeld, J.A. 5
  9. Yang, Y. 5
  10. Cordeiro, D. 6
  11. McCormick, E.M. 7
  12. Muraresku, C.C. 7
  13. Jepperson, T.N. 1
  14. McBeth, L.J. 1
  15. Seidahmed, M.Z. 8
  16. El Khashab, H.Y. 910
  17. Hamad, M. 9
  18. Azzedine, H. 11
  19. Clark, K. 12
  20. Corrochano, S. 2
  21. Wells, S. 2
  22. Elting, M.W. 13
  23. Weiss, M.M. 13
  24. Burn, S. 1
  25. Myers, A. 1
  26. Landsverk, M. 1
  27. Crotwell, P.L. 1
  28. Waisfisz, Q. 13
  29. Wolf, N.I. 13
  30. Nolan, P.M. 2
  31. Padilla-Lopez, S. 1415
  32. Houlden, H. 4
  33. Lifton, R. 16
  34. Mane, S. 16
  35. Singh, B.B. 3
  36. Falk, M.J. 7
  37. Mercimek-Mahmutoglu, S. 6
  38. Bilguvar, K. 16
  39. Salih, M.A. 9
  40. Acevedo-Arozena, A. 2
  41. Kruer, M.C. 114151718
  42. Show all authors +
  1. 1 Children's Health Research Center, Sanford Research
  2. 2 Mammalian Genetics Unit, Medical Research Council Harwell
  3. 3 Department of Basic Sciences, University of North Dakota
  4. 4 Department of Molecular Neuroscience, UCL Institute of Neurology
  5. 5 Baylor College of Medicine
    info

    Baylor College of Medicine

    Houston, Estados Unidos

    ROR https://ror.org/02pttbw34

  6. 6 Hospital for Sick Children
    info

    Hospital for Sick Children

    Toronto, Canadá

    ROR https://ror.org/057q4rt57

  7. 7 Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
  8. 8 Department of Pediatrics, Security Forces Hospital
  9. 9 Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University
  10. 10 Ain Shams University
    info

    Ain Shams University

    Cairo, Egipto

    ROR https://ror.org/00cb9w016

  11. 11 Institute of Neuropathology, Uniklinik RWTH Aachen
  12. 12 Mayo Clinic
    info

    Mayo Clinic

    Rochester, Estados Unidos

    ROR https://ror.org/02qp3tb03

  13. 13 VU University Medical Center
    info

    VU University Medical Center

    Ámsterdam, Holanda

    ROR https://ror.org/00q6h8f30

  14. 14 University of Arizona
    info

    University of Arizona

    Tucson, Estados Unidos

    ROR https://ror.org/03m2x1q45

  15. 15 Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital
  16. 16 Yale School of Medicine
    info

    Yale School of Medicine

    New Haven, Estados Unidos

  17. 17 Arizona State University
    info

    Arizona State University

    Tempe, Estados Unidos

    ROR https://ror.org/03efmqc40

  18. 18 Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital
Journal:
American Journal of Human Genetics

ISSN: 1537-6605

Year of publication: 2016

Volume: 98

Issue: 6

Pages: 1249-1255

Type: Article

DOI: 10.1016/J.AJHG.2016.04.008 PMID: 27236917 SCOPUS: 2-s2.0-84969922984 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus