The prefrontal cortex (PFC) serves as the chief executive officer of the brain, controlling the
highest level cognitive and emotional processes. Its local circuits among glutamatergic …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …

Autism spectrum disorder (ASD) is thought to result from deviation from normal development
of neural circuits and synaptic function. Many genes with mutation in ASD patients have …

De novo variation in SCN2A can give rise to severe childhood disorders. Biophysical gain of
function in SCN2A is seen in some patients with early seizure onset developmental and …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na V 1.2,
are strongly associated with autism spectrum disorder and intellectual disability. An …

Glaucoma causes loss of vision through degeneration of the retinal ganglion cell (RGC)
projection to the brain. The disease is characterized by sensitivity to intraocular pressure …