Article
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Neural plasticity - 1 Jan 2012
Kilstrup-Nielsen Charlotte, Rusconi Laura, La Montanara Paolo, Ciceri Dalila, Bergo Anna, Bedogni Francesco, Landsberger Nicoletta
Abstract excerpt
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. The association of CDKL5 with neurodevelopmental...
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