Topic: Neuroligin 2

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

GABAA receptors (γ-aminobutyric acid-gated receptors type A) are the essential structural and functional postsynaptic components of inhibitory synapses in the mammalian brain. They belong to a family of GABA-gated Cl/HCO3-permeable ion channels which are built as hetero-pentamers of subunits classified as α(1-6), β(1-3), γ(1-3), δ, ε, π, θ and ρ(1-3). How, where, and when the inhibitory synapses are formed is tightly regulated during early brain development and later synaptogenesis by genetic and environmental factors. Multiple proteins have been shown to participate in the initiation and func