Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
Balestra D et al.
International Journal of Molecular Sciences, 2019
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Gürsoy S et al.
Journal of Child Neurology, 2016
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
Zhao Y et al.
Bmc Medical Genetics, 2014
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N et al.
American Journal of Medical Genetics. Part A, 2012
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C et al.
Neural Plasticity, 2012
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C et al.
Clinical Genetics, 2009
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S et al.
Neurogenetics, 2009
Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2008
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
Pintaudi M et al.
Epilepsy & Behavior : E&b, 2008
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