Associated Papers
CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.
Rodak M et al.
Children (basel, Switzerland), 2022
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Neupauerová J et al.
Genetic Testing and Molecular Biomarkers, 2017
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