Sam Amin, Rikke S Møller, Angel Aledo-Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early-onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease-modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development...
March 7, 2024: Epilepsia Open