EPILEPTIC SEIZURES CAUSED BY INACTIVATION OF A NOVEL GENE, JERKY, RELATED TO CENTROMERE-BINDING PROTEIN-B IN TRANSGENIC MICE

Epidemiological data and genetic studies indicate that certain forms o f human epilepsy are inherited. Based on the similarity between the hu man and mouse genomes, mouse models of epilepsy could facilitate the d iscovery of genes associated with epilepsy syndromes. Here, we report an insertional murine mutation that inactivates a novel gene and resul ts in whole body jerks, generalized clonic seizures, and epileptic bra in activity in transgenic mice. The gene, named jerky, encodes a putat ive 41.7 kD protein displaying homology to a number of nuclear regulat ory proteins, suggesting that perhaps the jerky protein is able to bin d DNA.