Sodium channel defects in myotonia and periodic paralysis - PubMed (original) (raw)

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

Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Corrochano S, et al. Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27. Brain. 2014. PMID: 25348630 Free PMC article.