Article
Distinct neurological disorders with ATP1A3 mutations.
The Lancet. Neurology - 1 May 2014
Heinzen Erin L, Arzimanoglou Alexis, Brashear Allison, Clapcote Steven J, Gurrieri Fiorella, Goldstein David B, Jóhannesson Sigurður H, Mikati Mohamad A, Neville Brian, Nicole Sophie, Ozelius Laurie J, Poulsen Hanne, Schyns Tsveta, Sweadner Kathleen J, van den Maagdenberg Arn, Vilsen Bente
Abstract excerpt
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact...
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