Article
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain : a journal of neurology - 30 Jun 2022
Vivekanandam Vinojini, Männikkö Roope, Skorupinska Iwona, Germain Louise, Gray Belinda, Wedderburn Sarah, Kozyra Damian, Sud Richa, James Natalie, Holmes Sarah, Savvatis Konstantinos, Fialho Doreen, Merve Ashirwad, Pattni Jatin, Farrugia Maria, Behr Elijah R, Marini-Bettolo Chiara, Hanna Michael G, Matthews Emma
Abstract excerpt
Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterized by episodic weakness, cardiac arrythmias and dysmorphic features. However, the full extent of the multisystem phenotype is not well described. In-depth, multisystem phenotyping is required to inform diagnosis and guide...
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