CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

@article{Mari2005CDKL5BT,
  title={CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.},
  author={Francesca Mari and Sara Azimonti and Ilaria Bertani and Fabrizio Bolognese and Elena V Colombo and Rossella Caselli and Elisa Scala and Ilaria Longo and Salvatore Grosso and Chiara Pescucci and Francesca Ariani and Giuseppe Hayek and Paolo Balestri and Anna Bergo and Gianfranco Badaracco and Michele Zappella and Vania Broccoli and Alessandra Renieri and Charlotte Kilstrup-Nielsen and Nicoletta Landsberger},
  journal={Human molecular genetics},
  year={2005},
  volume={14 14},
  pages={1935-46}
}
Rett syndrome (RTT) is a severe neurodevelopmental disorder almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Most patients affected by classic RTT and a smaller percentage of patients with the milder form 'preserved speech variant' have either point mutations or deletions/duplications in the MECP2 gene. Recently, mutations in the CDKL5 gene, coding for a putative kinase, have been found in female patients with a phenotype overlapping with… CONTINUE READING
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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

  • J. Tao, H. Van Esch, +7 authors J Gécz
  • Am. J. Hum. Genet.,
  • 2004
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