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

  • Nils Rademacher
  • Melanie Hambrock
  • Ute Fischer
  • Bettina Moser
  • Berten Ceulemans
  • Wolfgang Lieb
  • Rainer Boor
  • Irina Stefanova
  • Gabriele Gillessen-Kaesbach
  • Charlotte Runge
  • Georg Christoph Korenke
  • Stefanie Spranger
  • Franco Laccone
  • Andreas Tzschach
  • Vera M. Kalscheuer
LETTER TO THE EDITORS

Keywords

CDKL5 Rett syndrome Seizures Infantile spasms 

Supplementary material

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

References

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    Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J (2003) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72(6):1401–1411. doi:10.1086/375538 PubMedCrossRefGoogle Scholar
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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Nils Rademacher
    • 1
  • Melanie Hambrock
    • 1
  • Ute Fischer
    • 1
  • Bettina Moser
    • 1
  • Berten Ceulemans
    • 2
  • Wolfgang Lieb
    • 3
  • Rainer Boor
    • 4
  • Irina Stefanova
    • 3
  • Gabriele Gillessen-Kaesbach
    • 3
  • Charlotte Runge
    • 3
  • Georg Christoph Korenke
    • 5
  • Stefanie Spranger
    • 6
  • Franco Laccone
    • 7
  • Andreas Tzschach
    • 1
  • Vera M. Kalscheuer
    • 1
  1. 1.Max Planck Institute for Molecular GeneticsDepartment of Human Molecular GeneticsBerlinGermany
  2. 2.Department of Neurology-Child NeurologyUniversity of AntwerpAntwerpBelgium
  3. 3.Institut für HumangenetikUniversität zu LübeckLübeckGermany
  4. 4.Klinik für NeuropädiatrieUniversitätsklinikum Schleswig-Holstein, CampusKielGermany
  5. 5.Department of NeuropediatricsChildren’s HospitalOldenburgGermany
  6. 6.Praxis für HumangenetikBremenGermany
  7. 7.Department of Medical GeneticsMedical University of ViennaViennaAustria

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