neurogenetics

, Volume 12, Issue 2, pp 165–167

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

Authors

  • Nils Rademacher
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
  • Melanie Hambrock
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
  • Ute Fischer
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
  • Bettina Moser
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
  • Berten Ceulemans
    • Department of Neurology-Child NeurologyUniversity of Antwerp
  • Wolfgang Lieb
    • Institut für HumangenetikUniversität zu Lübeck
  • Rainer Boor
    • Klinik für NeuropädiatrieUniversitätsklinikum Schleswig-Holstein, Campus
  • Irina Stefanova
    • Institut für HumangenetikUniversität zu Lübeck
  • Gabriele Gillessen-Kaesbach
    • Institut für HumangenetikUniversität zu Lübeck
  • Charlotte Runge
    • Institut für HumangenetikUniversität zu Lübeck
  • Georg Christoph Korenke
    • Department of NeuropediatricsChildren’s Hospital
  • Stefanie Spranger
    • Praxis für Humangenetik
  • Franco Laccone
    • Department of Medical GeneticsMedical University of Vienna
  • Andreas Tzschach
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
    • Max Planck Institute for Molecular GeneticsDepartment of Human Molecular Genetics
LETTER TO THE EDITORS

DOI: 10.1007/s10048-011-0277-6

Cite this article as:
Rademacher, N., Hambrock, M., Fischer, U. et al. Neurogenetics (2011) 12: 165. doi:10.1007/s10048-011-0277-6

Keywords

CDKL5 Rett syndrome Seizures Infantile spasms

Supplementary material

10048_2011_277_MOESM1_ESM.doc (740 kb)
ESM 1 (DOC 739 kb)

Copyright information

© Springer-Verlag 2011