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A novel autism-associated KCNB1 mutation dramatically slows Kv2.1 potassium channel activation, deactivation and inactivation

KCNB1, on human chromosome 20q13.3, encodes the alpha subunit of the Kv2.1 voltage gated potassium channel. Kv2.1 is ubiquitously expressed throughout the brain and is critical in controlling neuronal excitability, including in the hippocampus and pyramidal neurons. Human KCNB1 mutations are known t...

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Principais autores: Rían W. Manville, Samantha D. Block, Claire L. Illeck, Jessica Kottmeier, Richard Sidlow, Geoffrey W. Abbott
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Cellular Neuroscience
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Acceso en liña:https://www.frontiersin.org/articles/10.3389/fncel.2024.1438101/full
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