Article
Genome-wide screen for modifiers of Na (+) /K (+) ATPase alleles identifies critical genetic loci.
Molecular brain - 5 Dec 2014
Talsma Aaron D, Chaves John F, LaMonaca Alexandra, Wieczorek Emily D, Palladino Michael J
Abstract excerpt
BACKGROUND: Mutations affecting the Na (+) / K (+) ATPase (a.k.a. the sodium-potassium pump) genes cause conditional locomotor phenotypes in flies and three distinct complex neurological diseases in humans. More than 50 mutations have been identified affecting the human ATP1A2 and ATP1A3 genes that are known to cause rapid-onset Dystonia Parkinsonism, familial hemiplegic migraine, alternating hemiplegia of...
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