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

      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 (Oxford University Press, 2014)
      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 ...