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On the multiple roles of the voltage gated sodium channel ?1 subunit in genetic diseases.

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 ?-subunit and associated ?-subunits. The ?1-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 ?1 are implicated in a wide variety of inherited pathologies, including epilepsy and cardiac conduction diseases. This review summarizes ?1-subunit related channelopathies pointing out the current knowledge concerning their genetic background and their underlying molecular mechanisms.

SUBMITTER: Baroni D

PROVIDER: S-EPMC4434899 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Baroni Debora D Moran Oscar O

Frontiers in pharmacology 20150518

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 conduct ...[more]

PMID: 26042039

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