AAV9-Mediated Intrastriatal Delivery of Reduces Hyperlocomotion in Heterozygous R209H Mutant Mice.

Mutations in the gene, which encodes the abundant brain G-protein G , result in neurologic disorders characterized by developmental delay, epilepsy, and movement abnormalities. There are over 50 mutant alleles associated with disorders; the R209H mutation results in dystonia, choreoathetosis, and developmental delay without seizures. Mice heterozygous for the human mutant allele ( ) exhibit hyperactivity in open field tests but no seizures.