De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. [electronic resource]
- Nature genetics Sep 2012
- 1030-4 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2358 doi
Adult Animals COS Cells Child Chlorocebus aethiops Family Female Genetic Predisposition to Disease HeLa Cells Hemiplegia--genetics High-Throughput Nucleotide Sequencing Humans Male Models, Biological Mutation--physiology Pedigree Protein Structure, Secondary Sodium-Potassium-Exchanging ATPase--chemistry