International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions. Approximately 4% of the population is affected by epilepsy, making it one of the most prevalent brain disorders amo
Epilepsy is a neurological disorder characterized by recurring seizures. Seizures are temporary disruptions of the electrical and chemical activity in the brain, leading to physical symptoms such as convulsions, muscle contractions, loss of consciousness, and changes in behavior. It is estimated to affect over 65 million people worldwide.
In some cases, the cause of epilepsy may stem from patches of damaged or abnormal brain tissue known as “malformations of cortical development” . These MCDs result in a variety of neurodevelopment disorders. Surgical resection or removal of the patch can cure the seizures, and epilepsy surgery to improve neurological outcomes is now a key part of the modern medical armamentarium, but what causes the patches has largely remained a mystery.
An international consortium led by UC San Diego has identified at least some of the genetic drivers of a mysterious form of pediatric epilepsy. Credit: UC San Diego Health Sciences The team conducted intensive genomic discovery using state-of-art somatic mosaic algorithms developed by the National Institutes of Health-sponsored Brain Somatic Mosaicism Network, of which UC San Diego is a member.
“We can draw parallels with the cancer field because these mutations disrupt cellular function and need to be resected,” said co-first author Chung. “However, unlike cancer cells, brain cells mostly do not divide so these cells misbehave by stimulating epileptic seizures. The question that arose was whether the newly found gene mutations were sufficient to cause MCD disease.”
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