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Genetic Diseases: Gene Perplexes Epilepsy Researchers

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Science  22 Mar 1996:
Vol. 271, Issue 5256, pp. 1672
DOI: 10.1126/science.271.5256.1672


When researchers from Stanford University and the University of Helsinki finally hunted down the gene for a rare form of epilepsy, they ended up with a puzzle. Because epileptic seizures occur when neurons fire excessively, epilepsy research has focused on neurotransmitters and their cell-surface receptors. But as the teams report in this issue of Science, the mutated gene, identified in a set of Finnish families, normally codes for a protein called cystatin B, which blocks the action of protein—degrading enzymes in the cell. Now the challenge is to explain how the absence of this protein could cause epilepsy.