Zebrafish: an interesting model to study CDKL5 deficiency disorder

Varela, Tatiana; Varela, Débora; Vitorino, Marta; Conceição, Natércia; Cancela, M. Leonor; Martins, Gil

http://hdl.handle.net/10400.1/13825

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Abstract(s)

CDKL5 deficiency disorder is a rare X-linked condition that results in early onset of impairedmotor and cognitive skills such as motor rigidity, stereotypical hand movements and deficient language acquisition aswell as recurrent seizures. It is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene, which encodes a serine/threonine kinase involved in important neuronal processes such as cell signaling and neuron morphogenesis.