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On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases

By Debora eBaroni and Oscar eMoran

Abstract

Voltage-gated sodium channels are intrinsic plasma membrane proteins that initiate the action potential in electrically excitable cells. They are composed of a pore-forming α-subunit and associated β-subunits. The β1-subunit was the first accessory subunit to be cloned. It can be important for controlling cell excitability and modulating multiple aspects of sodium channel physiology. Mutations of β1 are implicated in a wide variety of inherited pathologies, including epilepsy and cardiac conduction diseases. This review summarizes β1-subunit related channelopathies pointing out the current knowledge concerning their genetic background and their underlying molecular mechanisms

Topics: Brugada Syndrome, Channelopathies, Epilepsy, voltage-gated sodium channel, Cardiopathies, β1-subunit . GEFS+, Therapeutics. Pharmacology, RM1-950
Publisher: Frontiers Media S.A.
Year: 2015
DOI identifier: 10.3389/fphar.2015.00108
OAI identifier: oai:doaj.org/article:5989c220e4764cfd945f24ca8e924fb7
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