Title: | Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses |
Journal : | Scientific Reports, 8, 1 |
Authors: | Poulin H, Author ; Gosselin-Badaroudine P ; Vicart S ; Habbout K ; Sternberg D ; Giuliano S ; Fontaine B ; Bendahhou S ; Nicole S ; Chahine M |
Material Type: | Article |
Publication Date: | 2018 |
Languages: | English |
Keywords : | biophysics ; clinical presentation ; genetic mutations ; ion channel disease ; non dystrophic myotonic disease ; patch clamp ; periodic paralysis ; SCN4A gene ; skeletal muscle ; sodium channel disease ; sodium channels ; voltage-gated ion channels |
Pubmed / DOI : | DOI : 10.1038/s41598-018-20468-0 / Pubmed : 29391559 |
N° Profil MNM : | 2018021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29391559 |