Fluorescence-based drug repurposing screen of the potassium channel, KV3.1 with V434L mutation

Poster Description

K_V3.1 is a voltage-gated potassium channel encoded by the KCNC1 gene. Mutations in the K_V3.1 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 K_V3.1 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.

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