The Jackson Laboratory other research news
Jackson Lab scientists and colleagues published in Cell the identification of the gene defective in mouse slow-wave epilepsy (swe) mutants. These mice exhibit defects in locomotor coordination (ataxia) and have brief periods of behavioral arrest (seizures) similar to common human epilepsies, but are otherwise healthy. The defects were found to be due to neuronal cell death in the cerebellum and brainstem in the mutant mice.
The swe mutation is the first mutation in an Nhe gene found to cause a disease. The mutant mice have a single point mutation in the gene encoding Nhe1, a transporter responsible for the exchange of sodium and hydrogen across cell membranes. The authors suggested that the mutant mice could allow further study of genetically determined epilepsy in humans. ...