Article
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
Nature communications - 15 Feb 2011
Charizopoulou Nikoletta, Lelli Andrea, Schraders Margit, Ray Kausik, Hildebrand Michael S, Ramesh Arabandi, Srisailapathy C R Srikumari, Oostrik Jaap, Admiraal Ronald J C, Neely Harold R, Latoche Joseph R, Smith Richard J H, Northup John K, Kremer Hannie, Holt Jeffrey R, Noben-Trauth Konrad
Abstract excerpt
Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans....
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