Article
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2021
Siri Barbara, Varesio Costanza, Freri Elena, Darra Francesca, Gana Simone, Mei Davide, Porta Francesco, Fontana Elena, Galati Giulia, Solazzi Roberta, Niceta Marcello, Veggiotti Pierangelo, Alfei Enrico
Abstract excerpt
The X-linked Cyclin-Dependent Kinase-Like 5 (CDKL5) gene encodes a serine-threonine kinase highly expressed in the developing brain. Loss of function of CDKL5 is pointed out to underlie the CDKL5 Deficiency Disorder (CDD), an X-linked dominant disease characterized by early-onset epileptic encephalopathy and developmental delay, usually affecting females more than males. To the best to our knowledge, only 45...
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