Using this approach we characterized a mutant based on its abnormal motor behavior. However, mutants identified with abnormal motor behavior may have mutations in muscle proteins. We identified a semi-dominant mutation in the atp2a1 gene, which encodes a protein vital for normal muscle function, ...
Using molecular-genetic mapping and candidate gene analysis, we determined that accdta5 mutants harbor a novel mutation in atp2a1, which encodes SERCA1, a calcium pump important for muscle relaxation. Previous studies have shown that eight other acc alleles compromise SERCA1 function, but these ...
We report a typical case of AHC harboring a de novo mutation in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet. Because the contribution of the SLC2A1 mutation to the clinical phenotype cannot be...