BK channel activity in skin fibroblasts from patients with neurological disorder

BK channel activity in skin fibroblasts from patients with neurological disorder

Seventy-five unique variants in the KCNMA1 gene have been identified from individuals with neurological disorders. However, variant pathogenicity and evidence for disease causality are lacking in most cases. In this study, the KCNMA1 variants N999S and E656A (rs886039469 and rs149000684, respectivel...

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Bibliographic Details
Main Authors: Ria L. Dinsdale, Thomas R. Middendorf, Deborah Disilvestre, David Adams, William Gahl, Ellen F. Macnamara, Lynne Wolfe, Camilo Toro, Cynthia J. Tifft, Andrea L. Meredith
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Channels
Subjects:
BK channel
KCa1.1
calcium-activated potassium channel
KCNMA1
slowpoke
channelopathy
Online Access:https://www.tandfonline.com/doi/10.1080/19336950.2025.2542811
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https://www.tandfonline.com/doi/10.1080/19336950.2025.2542811

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