NIH R01 · 2025
A molecular dissection of BK channelopathy in neurological disorders
Project Summary The KCNMA1-encoded BK Slo1 potassium channel plays a pivotal role in regulating neural activity and neurotransmitter release. KCNMA1 variants, or channelopathies, have been increasingly identified in patients with neurological disorders, representing a spectrum of clinical manifestations, ranging from epilepsy, neurodevelopmental anomalies to movement disorders. Given this heterogeneity, precision medicine emerges as a vital need for tailored diagnosis and treatment. To meet this challenge, our multidisciplinary team hypothesizes that different KCNMA1 variants influence distinct molecular gating mechanisms, leading to differential alterations of neuronal activities and…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.