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

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

<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...

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Bibliographic Details
Main Authors: Maortua Hiart, Martínez-Bouzas Cristina, Calvo María-Teresa, Domingo Maria-Rosario, Ramos Feliciano, García-Ribes Ainhoa, Martínez María-Jesús, López-Aríztegui María-Asunción, Puente Nerea, Rubio Izaskun, Tejada María-Isabel
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Medical Genetics
Subjects:
<it>CDKL5</it>
Epilepsy
<it>MECP2</it>
MLPA
Rett syndrome
Online Access:http://www.biomedcentral.com/1471-2350/13/68

Internet

http://www.biomedcentral.com/1471-2350/13/68

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