Researchers at the Scripps Translational Science Institute in La Jolla announced today the discovery of a DNA mutation that leads to a severe form of epilepsy.
The finding came after the scientists mapped the DNA of a 10-year-old girl who suffers from epileptic encephalopathy.
Their discovery, reported in the journal Annals of Neurology, was a mutation on a gene that regulates the flow of potassium ions through neurons, affecting how the cells communicate with one another. That process also impacts potassium flow in the kidney, which controls excretion of that element and also fluid balance, according to the researchers.
Dr. Robert Bjork said that earlier this year, the girl's "prognosis was grim and appeared hopeless when she was experiencing many convulsive seizures, could barely eat or drink, and had 'drop attacks' where she would abruptly drop to the floor up to 25 times a day."
The discovery of the gene mutation, however, opens treatment options for the youngster, said Bjork, who is on the staff at Scripps Memorial Hospital.
Ali Torkamani, director of genome informatics at the STSI and an assistant professor of integrative, structural and computational biology at The Scripps Research Institute, said the results will have an impact beyond this one case.
"These findings can serve as a model on how to treat this particular form of epilepsy in other patients," Torkamani said. "The KCNB1 mutations also might have a role as a diagnostic biomarker for this condition, and they could help to direct the discovery and testing of new drugs to treat epilepsy."
The research was part of the institute's IDIOM Study, an ongoing project that uses whole genome sequencing to help determine the causes and treatments of serious, rare and perplexing health conditions that defy a diagnosis and standard therapy.
"We are continuing to learn the impressive power of whole genome sequencing for making a difficult — and heretofore impossible — diagnosis," said Dr. Eric Topol, director of STSI and chief academic officer of Scripps Health.
STSI is a National Institutes of Health-sponsored collaboration between Scripps Health and TSRI.
The study was funded in part by Scripps Genomic Medicine, the NIH Clinical and Translational Science Award, the Shaffer Family Foundation, the Anne and Henry Zarrow Foundation, and the National Human Genome Institute.
