Associated Papers
Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open-label prospective study.
Perulli M et al.
Epilepsia Open, 2026
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Neupauerová J et al.
Genetic Testing and Molecular Biomarkers, 2017
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
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
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