We have developed a robust high-throughput automated electrophysiology assay using a monoclonal CHO-hNav1.9 cellular reagent suitable for fully supporting a Nav1.9 discovery program.
KV3.1 is a voltage-gated potassium channel encoded by the KCNC1 gene. Mutations in the KV3.1 protein can manifest as a variety of neurological disorders including myoclonic epilepsy and ataxia due to K+ channel mutation (MEAK), developmental epileptic encephalopathy (DEE), or hypotonia.
The KCNC1 Foundation was founded by the parents of Eliana, a child from Canada who was diagnosed with an ultra-rare de novo mutation (V434L) in the KCNC1 gene, which encodes the KV3.1 ion channel in humans, at age 9 months. Eliana does not display typical DEE, but exhibits significant hypotonia, cortical-visual impairment, vertical nystagmus, and global delays. The KCNC1 Foundation has registered 36 patients affected by 14 different genetic variants in the KCNC1 gene. Of these patients, 25% share the A421V variant, 12.5% have MEAK caused by the R320H variant, a few exhibit the V432M variant, and the remaining variants are seen in 1 – 3 patients.
We have developed a robust high-throughput automated electrophysiology assay using a monoclonal CHO-hNav1.9 cellular reagent suitable for fully supporting a Nav1.9 discovery program.
Metrion and Sophion present findings that determine whether other insoluble salts can act as seal enhancers and how these solution pairs affect the biophysical properties and pharmacology of the investigated ion channels.