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Article

Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.

PLoS genetics - 1 May 2017

Isaksen Toke Jost, Kros Lieke, Vedovato Natascia, Holm Thomas Hellesøe, Vitenzon Ariel, Gadsby David C, Khodakhah Kamran, Lykke-Hartmann Karin

Abstract excerpt

Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo...

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PMID: 28472154
DOI: 10.1371/journal.pgen.1006763
PMCID: PMC5436892

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