Article
Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy.
The Journal of physiology - 1 Nov 2020
Pantazis Antonios, Kaneko Maki, Angelini Marina, Steccanella Federica, Westerlund Annie M, Lindström Sarah H, Nilsson Michelle, Delemotte Lucie, Saitta Sulagna C, Olcese Riccardo
Abstract excerpt
KEY POINTS: KV1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K+ upon depolarization. A new KCNA2 missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix S4, in the KV1.2 voltage-sensing domain. Immunocytochemistry and flow cytometry showed that F302L does not impair KCNA2 subunit surface trafficking. Molecular dynamics...
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