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

• Main Authors: Maortua Hiart (Author), Martínez-Bouzas Cristina (Author), Calvo María-Teresa (Author), Domingo Maria-Rosario (Author), Ramos Feliciano (Author), García-Ribes Ainhoa (Author), Martínez María-Jesús (Author), López-Aríztegui (Author), Puente Nerea (Author), Rubio Izaskun (Author), Tejada María-Isabel (Author)
• Format: Book
• Published: BMC, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Mutations in the cyclin-dependent kinase-like 5 gene (<it>CDKL5</it>) 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 po...