Associated Papers
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D et al.
Epilepsy Research, 2021
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
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
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
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