Title: | Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients |
Journal : | Frontiers in neurology, 11 |
Authors: | Maggi L ; Brugnoni R ; Canioni E ; Tonin P ; Saletti V ; Sola P ; Piccinelli SC ; Colleoni L ; Ferrigno P ; Pini A ; Masson R ; Manganelli F ; Lietti D ; Vercelli L ; Ricci G ; Bruno C ; Tasca G ; Pizzuti A ; Padovani A ; Fusco C ; Pegoraro E ; Ruggiero L ; Ravaglia S ; Siciliano G ; Morandi L ; Dubbioso R ; Mongini T ; Filosto M ; Tramacere I ; Mantegazza R ; Bernasconi P |
Material Type: | Article |
Publication Date: | 2020 |
Size: | p 646 |
Languages: | English |
Keywords: | SCN4A gene mutation;SNEL;channelopathies;myotonia;periodic paralysis;voltage-gated sodium channel NaV1.4; |
Pubmed / DOI : | Pubmed : 32849172 / DOI : 10.3389/fneur.2020.00646 |
N° Profil MNM : | 2020091 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32849172 |