Auteurs
Donaldson MR - Jensen JL - Tristani-Firouzi M - Tawil R - Bendahhou S - Suarez WA - Cobo AM - Poza JJ - Behr E - Wagstaff J - Szepetowski P - Pereira S - Mozaffar T - Escolar DM - Fu YH - Ptácek LJ
Journal
Neurology
Abstract
Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). Although pathogenic mechanisms have been proposed for select mutations, a common mechanism has not been identified.