A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Annals of clinical and translational neurology(2023)
Abstract
Electrophysiological recordings are consistent with a gain of K+ channel function that is predicted to exert a loss of function on the excitability of Kv3-expressing high frequency- firing neurons based on the unique electrophysiological properties of Kv3 channels. These results define a clinical-genetic syndrome within the spectrum of KCNC1-related neurological disorders.
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Key words
neurological disorder
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