Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

doi:10.1093/brain/awu292

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Article

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Brain : a journal of neurology - 1 Dec 2014

Corrochano Silvia, Männikkö Roope, Joyce Peter I, McGoldrick Philip, Wettstein Jessica, Lassi Glenda, Raja Rayan Dipa L, Blanco Gonzalo, Quinn Colin, Liavas Andrianos, Lionikas Arimantas, Amior Neta, Dick James, Healy Estelle G, Stewart Michelle, Carter Sarah, Hutchinson Marie, Bentley Liz, Fratta Pietro, Cortese Andrea, Cox Roger, Brown Steve D M, Tucci Valter, Wackerhage Henning, Amato Anthony A, Greensmith Linda, Koltzenburg Martin, Hanna Michael G, Acevedo-Arozena Abraham

Abstract excerpt

Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstream from their...

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PMID: 25348630
DOI: 10.1093/brain/awu292
PMCID: PMC4240299

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