After a decade of research, an international team of scientists have uncovered the genetic roots of a specific form of epilepsy known as malformations of cortical development (MCD). This debilitating neurological disorder, which affects children, causes seizures that are resistant to treatment.

The team, comprising of researchers from more than 20 children’s hospitals, examined 283 brain resections of children with various types of MCD. Through this extensive analysis, they were able to identify the hidden genetic mutations that cause the disorder. The study, which was conducted in San Diego, California, was published in the journal Nature Genetics.

Mosaic Genetic Mutations

Scientists delved deep into the genetic makeup of a specific subset of brain cells known as “genetic somatic mosaicism” to uncover the root cause of a particular form of epilepsy. “We initially struggled to detect mutations present in as little as 1% of cells,” said co-author Dr. Xiaoxu Yang. “To overcome these obstacles, we had to develop new AI-based methods to enhance sensitivity and specificity.”

Their hard work paid off as the team identified 69 different mutated genes, many of which had not been previously associated with the disorder. “The MCD genes found in patient brains play a crucial role in cortical development,” said Joseph Gleeson, a professor of neuroscience at UC San Diego School of Medicine and Director of Neuroscience Research at Rady Children’s Institute for Genomic Medicine. “These groundbreaking discoveries could lead to new molecular classifications for MCD and ultimately pave the way for personalized therapies for epilepsy,” he added.