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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Κύριοι συγγραφείς:	Rían W. Manville, Samantha D. Block, Claire L. Illeck, Jessica Kottmeier, Richard Sidlow, Geoffrey W. Abbott
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2024-07-01
Σειρά:	Frontiers in Cellular Neuroscience
Θέματα:	autism absence seizures developmental delay KCNB1 Kv2.1
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fncel.2024.1438101/full
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