Master Gene Found for Intellectual Disability and Epilepsy

For the first time, researchers have identified a major gene that is responsible for intellectual disability and epilepsy, which often occur together and frequently have genetic causes. Previously nine other epilepsy-causing genes had been identified, belonging predominantly to a specific group called ‘ion channels,' but they have nothing to do with intellectual disability.

"This gene is found on the X-chromosome and is one of probably 100 genes on that chromosome, which when mutated, can cause intellectual disability. The really novel aspect to this gene is its involvement in epilepsy as well as in intellectual disability,” said Dr. Jozef Gecz, from the Department of Cytogenetics and Molecular Genetics of the Women's and Children's Hospital (Adelaide, Australia).

Dr. Gecz explained that the new gene is different, being more of a master gene that controls how, where, and when other genes work and thus contributing to the normal cognitive function of the human brain. "It will be very interesting to know the identity of the genes that are under control of this master gene, as they may potentially be involved in either epilepsy, intellectual disability, or both,” added Dr. Gecz, who led a team of 17 researchers from six collaborating countries. The study was published on March 11, 2002, on the Nature Genetics website.

The researchers studied genetic material from nine families from different parts of the world. They found that the same mutations in the gene gave rise to epilepsy, including early childhood epilepsy and other types of seizures, dystonia, and intellectual disability. It is not yet known why this should occur. Families and isolated cases with ‘nonspecific' intellectual disability may be the main beneficiaries of the identification of this gene. If substantiated by further experiments, the research may speed diagnosis of the disorder that until now was only revealed by delayed development and intellectual impairment.




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