A novel epilepsy gene

Abstract

Clues to the causes of epilepsy have come from work on Frings mice – spontaneously occurring mutants that are susceptible to seizures triggered by loud noises. Unlike many rodent models of audiogenic-seizure susceptibility (AGS) which are polygenic, recent work by Skradski and colleagues has revealed that the Frings phenotype is due to the autosomal recessive inheritance of a single gene, Mass1. Mutant mice are homozygous for a single basepair deletion in the Mass1 gene, resulting in premature termination of the encoded protein product. This novel protein product provides a new mechanism for the cause of epilepsy. The MASS1 protein is likely to have a role in the metabolism of iron or other metals, oxidative stress and/or neurotransmitter processing, whereas to date most AGS genes have encoded ion channels. (Skradski, S.L. et al. [2001] Neuron 31, 537–544) AI