Article
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
American journal of medical genetics. Part A - 1 Jul 2012
Bahi-Buisson Nadia, Villeneuve Nathalie, Caietta Emilie, Jacquette Aurélia, Maurey Helene, Matthijs Gert, Van Esch Hilde, Delahaye Andrée, Moncla Anne, Milh Mathieu, Zufferey Flore, Diebold Bertrand, Bienvenu Thierry
Abstract excerpt
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome. With more than 80 reported patients, the phenotype of CDKL5-related encephalopathy is well-defined. The main features consist of seizures starting before 6 months of age, severe intellectual disability with absent speech and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.