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BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy

The molecular basis of a severe developmental and neurological disorder associated with a de novo G375R variant of the tetrameric BK channel is unknown. Here, we address this question by recording from single BK channels expressed to mimic a G375R mutation heterozygous with a WT allele. Five differe...

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Detalles Bibliográficos
Autores principales: Geng, Yanyan, Li, Ping, Butler, Alice, Wang, Bill, Salkoff, Lawrence, Magleby, Karl L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067970/
https://www.ncbi.nlm.nih.gov/pubmed/36995317
http://dx.doi.org/10.1085/jgp.202213302