Epilepsy caused by CDKL5 mutations.

  title={Epilepsy caused by CDKL5 mutations.},
  author={Maija L Castr{\'e}n and Eija Gaily and Carola Tengstr{\"o}m and Jaana L{\"a}hdetie and Hayley L Archer and Sirpa Ala-Mello},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  volume={15 1},
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown… CONTINUE READING
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