CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Background Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.