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

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. METHODS: We performed mutation screening of CDKL5 in 60 fema...

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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: Text
Language:English
Published: BioMed Central 2012
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Research Article
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC3489578/
https://pubmed.ncbi.nlm.nih.gov/22867051
http://dx.doi.org/10.1186/1471-2350-13-68
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https://pmc.ncbi.nlm.nih.gov/articles/PMC3489578/
https://pubmed.ncbi.nlm.nih.gov/22867051
http://dx.doi.org/10.1186/1471-2350-13-68

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