KCNC2 is most highly expressed in the brain; in particular, in the thalamus and is enriched in GABAergic neurons. Long‐read sequencing was useful in discovering the relevant variant in this family with autism that had remained a mystery for several years and will potentially have great ...
It has previously been established that leptin's anti-obesity effects are mediated by leptin-responsive GABAergic neurons35. Double knock-out mice (lacking KCNC1 and KCNC2 genes) exhibited the impacts of physiological properties on the circadian oscil- lations36, suggesting that Kv 3 channels may...
The Kv3.2 subfamily of voltage activated potassium channels encoded by the KCNC2 gene is abundantly expressed in neurons that fire trains of fast action potentials that are a major source of cortical inhibition. Gain-of-function (GOF) de novo pathogenic variants in KCNC1...