CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain

@inproceedings{Martinez2012CDKL5ID,
  title={CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain},
  author={Ana Roche Martínez and Judith Armstrong and Edgar Gerotina and Carmen Fons and Jaume Campistol and Merc{\'e} Pineda},
  year={2012}
}
  • Ana Roche Martínez, Judith Armstrong, +3 authors Mercé Pineda
  • Published 2012
  • Biology
  • Mutations in cyclin-dependent kinase-like 5 (CDKL5) have been observed in patients with epileptic encephalopathies and atypical variants of Rett syndrome (RTT) associated with early epilepsy. Determination of the type and location ofCDKL5 mutations may provide molecular diagnosis and prognostic information and aid in genetic counseling for the family. Molecular analysis of CDKL5 and X-chromosome inactivation pattern in 53 Spanish RTT girls (without identifiable methyl-CpG-binding-protein 2) and… CONTINUE READING

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