Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients

Arq Neuropsiquiatr. 2013 Jun;71(6):414-5. doi: 10.1590/0004-282X20130050.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brazil
  • Female
  • Humans
  • Infant
  • Mutation / genetics*
  • Phenotype
  • Protein Serine-Threonine Kinases / genetics*
  • Rett Syndrome / genetics*
  • Rett Syndrome / pathology
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / pathology

Substances

  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human

Supplementary concepts

  • Rett Syndrome, Atypical