By studying families whose members have an uncommon form of epilepsy, researchers have revealed a new gene, and possibly a new mechanism, for the condition.
Ruth Ottman and colleagues at Columbia University in New York City have identified mutations in a gene called LGl1 in individuals who have a type of epilepsy that manifests as "sound" hallucinations -- in other words, during a seizure affected individuals will often "hear" sounds that are not real (Nature Genetics). These symptoms suggest that the epilepsy arises from the abnormal functioning of a specific area of the brain responsible for sound perception. Although inheriting a mutated copy of the gene does not guarantee getting epilepsy, the disorder will develop in about 70 percent of cases.
A handful of genes that predispose to other types of epilepsy in humans are known -- all of which code for proteins that let chemical signals in and out of brain cells. While the precise function of the LGl1 gene is unknown, it does not appear to fall in the same category but may be necessary for proper brain development.
Previous studies have indicated that loss of the LGI1 gene promotes the progression of certain types of brain tumors. However, Ottman's group found no evidence for an increased risk for developing brain cancer in people carrying a mutant copy of the gene.
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