Title: | Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity |
Journal : | Brain : a journal of neurology |
Authors: | Vivekanandam V ; Vivekanandam V ; Männikkö R ; Skorupinska I ; Germain L ; Gray B ; Wedderburn S ; Kozyra D ; Sud R ; James N ; Holmes S ; Savvatis K ; Fialho D ; Merve A ; Pattni J ; Farrugia M ; Behr ER ; Marini-Bettolo C ; Hanna MG ; Matthews E |
Material Type: | Article |
Publisher: | England, 17/12/2021 |
Languages: | English |
Keywords : | acetazolamide ; Andersen syndrome ; cohort studies ; genetic analysis ; genotype-phenotype correlation ; guidelines ; ion channel disease ; medical imaging ; medical treatment ; phenotypes ; pregnancy |
Keywords: | Andersen Tawil syndrome;cardiac risk;channelopathy; muscle;periodic paralysis; |
Pubmed / DOI : | Pubmed : 34919635 / DOI : 10.1093/brain/awab445 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/34919635 |