![]() This finding is particularly important because several anti-cancer drugs have been developed to target the RAS/MAPK pathway. All but one of the 11 mutations were connected to a specific genetic pathway known as the RAS/MAPK pathway. The team pinpointed 11 somatic mutations that were enriched in hippocampus, the region of the brain where seizures typically originate, from 11 patients with treatment-resistant TLE. The team sequenced portions of the genome coding for proteins (whole exome sequencing) and looked at specific locations in the genome (gene-panel sequencing), with each genomic region sequenced more than 500 times on average. ![]() To uncover somatic mutations, Khoshkhoo and colleagues performed a case-control genetic association study, analyzing DNA from brain tissue samples collected from 105 patients with epilepsy and 30 controls between 19. And the specific genetic pathway we have identified, RAS/MAPK, opens a whole new avenue of therapeutic possibilities, since anti-cancer drugs that target this pathway may have unexpected uses in epilepsy.” “It shows that epilepsies that are not usually inherited can still be genetic in their mechanism. “Our results provide the first solid insight into this most common form of adult epilepsy,” said co-senior author Christopher Walsh, MD, PhD, of Boston Children’s Hospital. We are discovering more and more new genetic pathways in epilepsy, which is important because our goal is to offer more specific, targeted treatments for individual patients and offer guidance on who would benefit from one treatment versus the other.” ![]() “And as an epileptologist who specifically focuses on epilepsy genetics in my clinical practice, my underlying assumption is that all epilepsy is due to genetic causes until proven otherwise. “Somatic mutations are likely an underappreciated and significant cause of neurologic diseases, particularly for epilepsy,” said co-first author Sattar Khoshkhoo, MD, of the Department of Neurology at Brigham and Women’s Hospital, a founding member of the Mass General Brigham healthcare system.
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