[Early-onset epileptic encephalopathy caused by CDKL5 mutation]

Ugeskr Laeger. 2014 Dec 15;176(25A):V01130031.
[Article in Danish]

Abstract

Two girls suffering from early-onset epileptic encephalopathy are described. Both girls had changes involving the gene CDKL5. They both had seizures in the first weeks of life and normal EEG interictally. Both developed infantile spasms and severe developmental defect. The epilepsy was difficult to treat.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Epileptic Syndromes
  • Female
  • Humans
  • Infant, Newborn
  • Mutation*
  • Protein-Serine-Threonine Kinases / genetics*
  • Rett Syndrome / diagnosis
  • Rett Syndrome / diet therapy
  • Rett Syndrome / drug therapy
  • Rett Syndrome / genetics*
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / diet therapy
  • Spasms, Infantile / drug therapy
  • Spasms, Infantile / genetics*

Substances

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

Supplementary concepts

  • CDKL5 deficiency disorder