Article
Longitudinal, multidimensional, observational study of 15 patients with CDKL5 Deficiency Disorder.
Clinical neurology and neurosurgery - 1 Nov 2024
Amato Alessia, Bonomo Giulio, Bonomo Roberta, Proietti Jacopo, Darra Francesca
Abstract excerpt
BACKGROUND: CDKL5 Deficiency Disorder (CDD) is a rare developmental and epileptic encephalopathy characterized by dominant X-linked inheritance and early infantile onset. To date, more than 300 pathogenic variants of the CDKL5 gene have been reported with different phenotypes. As a rare genetic disease, data on CDD are still limited, making the diagnostic and therapeutic process very challenging. The objective of...
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