Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels
Résumé
Disease-causing mutations in ion channels generally alter intrinsic gating properties such as activation, inactivation or voltage-dependence. We examined nine different mutations of the KCNT1 (Slack) Na +-activated K + channel that give rise to three distinct forms of epilepsy. All produced many fold-increases in current amplitude over that of the wild type channel. This could Author Contributions GEK designed and performed whole-oocyte electrophysiological and Western blot experiments; JK designed and performed single channel electrophysiological experiments; GB and HCM performed mutational analysis of patients' DNA samples; IHQ performed electrophysiological experiments; LC performed mutagenesis experiments; EB, JCT, OD and RN supervised clinical portions of the study; LKK supervised the electrophysiological experiments; GEK, JK, RN and LKK jointly wrote the manuscript. NIH Public Access
Domaines
Génétique humaine
Origine : Fichiers produits par l'(les) auteur(s)
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