ATP1A3
Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever
Chetan Immanneni,
Daniel Calame,
Song Jiao
et al.
Abstract:Background and Objectives
Heterozygous pathogenic variants in
ATP1A3
, which encodes the catalytic alpha subunit of neuronal Na
+
/K
+
-ATPase, cause primarily neurologic disorders with widely variable features that can include episodic movement deficits. One distinctive presentation of
ATP1A3
-related disease is recurrent fever-triggered encephalopathy. This can occur with generalized weakn… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.