P341: KCNA7 as a novel candidate gene in hypokalemic periodic paralysis
Abstract
The patient manages attacks with oral potassium chloride supplementation (60 mEq as needed) and has trialed acetazolamide, dichlorphenamide, spironolactone, and lacosamide with limited benefit or tolerability. He receives ongoing care from neurology and genetics teams. Functional validation using patch-clamp electrophysiology of the Kv1.7 channel is ongoing to assess the variant’s effect on potassium conductance and voltage-dependent activation.
Fields of Study & Subjects
Ion channel regulation and function
Cardiac electrophysiology and arrhythmias
Potassium and Related Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103835–103835
- Publication date
- 1 January 2026
- Language
- EN