Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

Neurogenetics. 2011 May;12(2):165-7. doi: 10.1007/s10048-011-0277-6. Epub 2011 Feb 12.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cells, Cultured
  • Cohort Studies
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Mice
  • Molecular Sequence Data
  • Mutation, Missense* / physiology
  • Phenotype
  • Protein-Serine-Threonine Kinases / genetics*
  • Rett Syndrome / complications
  • Rett Syndrome / genetics*
  • Seizures / complications
  • Seizures / epidemiology
  • Seizures / genetics*
  • Severity of Illness Index

Substances

  • Protein-Serine-Threonine Kinases
  • CDKL5 protein, human