| Title | Claps | Level | Year | L/Y |
|---|---|---|---|---|
|
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
29 auth. Silvia Corrochano, R. Männikkö, P. Joyce, P. McGoldrick, J. Wettstein, G. Lassi, D. R. Raja Rayan, G. Blanco, C. Quinn, A. Liavas, A. Lionikas, N. Amior, J. Dick, E. Healy, M. Stewart, ...
Corrochano Sanchez et al. identify a novel mutation (I588V) in SCN4A, which encodes the Nav1.4 voltage-gated sodium channel, in a patient with myotonia and periodic paralysis. By generating and characterizing a mouse model (‘draggen’) carrying the e…
Corrochano Sanchez et al. identify a novel mutation (I588V) in SCN4A, which encodes the Nav1.4 voltage-gated sodium channel, in a patient with myotonia and periodic paralysis. By generating and characterizing a mouse model (‘draggen’) carrying the equivalent point mutation (I582V), they uncover novel pathological and metabolic features of SCN4A channelopathies.
Published in
Brain : a journal of neurology
|
0
|
4 | 2014 |
Social Media Posts