Cortical GABAergic interneurons are critical components of neural networks. They provide
local and long-range inhibition and help coordinate network activities involved in various …

Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type
voltage-gated calcium channels, is associated with a clinically variable phenotype ranging …

Autism spectrum disorder (ASD) is a series of highly inherited neurodevelopmental
disorders. Loss-of-function (LOF) mutations in the CACNA2D3 gene are associated with …

Recessive and de novo mutations in the TRIO gene are associated with intellectual
deficiency (ID), autism spectrum disorder (ASD) and developmental epileptic …

CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the
CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2 …

Purpose: Proliferative diabetic retinopathy (PDR) is characterized by retinal new vessel
formation, pointing to the importance of the antiangiogenic treatment in PDR. Hepatocyte …

Discerning the contribution of specific ionic currents to complex neuronal dynamics is a
difficult, but important, task. This challenge is exacerbated in the human setting, although the …

N-methyl-D-aspartate receptor (NMDAR) hypofunction during brain development is likely to
contribute to the manifestation of schizophrenia (SCZ) in young adulthood. The cellular …

The vacuolar H+-ATPase is a multisubunit enzyme which plays an essential role in the
acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes …

Objective Studies have suggested that impaired sensory processing is a shared
characteristic of autism spectrum disorder (ASD) and migraine. However, the association …