Topic: CDKL5 deficiency disorder

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) are responsible for a severe neurodevelopmental disorder, namely CDKL5 deficiency disorder (CDD), characterized by early-onset epileptic encephalopathy, intellectual disability, and intractable seizures. So far, the role of CDKL5 in excitatory synapses has been widely explored; conversely, more has still to be investigated regarding its influence on the inhibitory compartment. Our recent data showed that CDKL5 loss impacts the number of synaptic GABAARs, which may be explained by its interaction with the postsynaptic scaffolding comp

CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder caused by mutations in the CDKL5 gene. CDD is characterized by early-onset epilepsy, global developmental delay, intellectual disability, autistic features, visual impairment, and motor impairment. The CDKL5 gene is located on the X-chromosome and is highly expressed in the forebrain. Despite some molecular and cellular functions of CDKL5 being revealed, gaps and controversies still exist between different studies. The molecular actions of CDKL5 in human-derived neurons and the effects of CDKL5 disruption remain unclear