For release: Thursday, February 7, 2002A new gene involved in a rare form of epilepsy, in which affected individuals may hear sounds that aren't there, has been identified by researchers supported by the National Institute of Neurological Disorders and Stroke (NINDS).
Ruth Ottman, Ph.D., and colleagues at Columbia University studied five families having more than one member who experienced at least two seizures with auditory features. (Previously, a gene associated with epilepsy with auditory features was located on chromosome 10.) Blood samples from all family members were taken and DNA was extracted and scored against a control group of 123 unrelated individuals with no known familial epilepsy. Ottman and her team found that all five families with members experiencing auditory features carried one mutated copy of the LGI1 gene (leucine-rich glioma-activated gene). They also found these seizures will develop in nearly 70 percent of persons inheriting the abnormal gene.
Previous studies have shown that loss of both copies of the LGI1 gene is linked to progression of glial tumors. No clear cases of glioblastoma were found in any of the affected patients in this study. Although the function of LGI1 is unclear, its perceived role in neuronal growth migration may offer clues to the cause of common epilepsy and tumor metastasis.
The study appears in the January 28, 2002, issue of Nature Genetics.
Kalachikov S., Evgrafov O., Ross B., et. al. "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features." Nature Genetics, January 28, 2002, advance online publication, DOI:10.1038/ng832.
- By Paul Girolami
Last Modified February 13, 2014