Researchers at the University of Utah are working on developing computational tools that can be used to help identify the genetic changes underlying early infantile epileptic encephalopathy. For more detailed information, you can view the source news release here, at the University of Utah Health’s website. Alternatively, you can find the published study that the article is based on in Nature Genomic Medicine by clicking here.
About Early Infantile Epileptic Encephalopathy (EIEE)
EIEE is a neurological condition that causes seizures, often extremely early on in life. According to the NIH, the disorder usually first affects infants within the first three months after birth, and usually within ten days. In some cases, episodes can occur over one hundred times per day. Often, the cause of EIEE is unclear, although in some cases genetic variations thought to cause the disorder can be identified. According to UUH’s article, if EIEE isn’t treated early on, the seizures are more likely to disrupt the infant’s development, and may be fatal. You can read more about EIEE at the NIH’s website by clicking here.
About the Research
Researchers from the University of Utah have created high-tech tools that can be used to identify genetic factors that can cause EIEE. According to Dr Quinlan, the senior author of the paper, many existing methods of genetic analysis fail to identify genetic changes that can underlie EIEE. He says that this is because the tests are too low resolution, or are only able to identify genes that are already known to be causative. As an alternative method, the research team developed technological tools that use algorithms to analyse genetic information for potentially disease-causing genes.
Patients Who Took Part
These tools were used to find the genes thought to cause EIEE in fourteen patients and their parents. The results indicated that EIEE was caused by a spontaneous mutation in twelve of the patients, one of who had a mutation in a gene not previously linked to EIEE. The other two patients were found to have significant structural genetic changes in genes previously found to be linked to EIEE (in one case a translocation, and in the other a duplication).