Epilepsy medication could control seizures in children with rare brain disorder

A common epilepsy medication could help control seizures in children with a rare genetic brain disorder, according to researchers at the University of Edinburgh.

Scientists have been studying GRIN2B-Related Disorder, a rare condition that affects the nervous system of young children.

It can cause severe autism, intellectual disability, epilepsy, and movement and muscular problems.

The condition became part of everyday life for Colette Dufficy when her son Aaron was a baby. She first noticed something wasn’t right when he wasn’t meeting developmental milestones such as rolling over or sitting up.

A paediatrician flagged the concerns, and genetic testing later revealed Aaron had a GRIN2B mutation.

Colette told STV News: “There’s issues basically with messages moving in and out of the brain, so receptive language, expressive language, and words he might know one day, he wouldn’t know the next.

“Aaron is chronologically nine years old, but he’s closer to a three-year-old, possibly a four-year-old on a good day.

“For us, Aaron is still in nappies full-time. He needs help with all dressing, feeding – he can put on a jumper, he can put on trousers – but buttons, zips, anything like that, is past him.”

While the diagnosis provided the family with some relief, they soon found that there was very little information available about the condition.

But that is something researchers at the University of Edinburgh want to change.

Their work shows that while Aaron’s condition does not cause seizures, many children with the same mutation do experience them. In studies with rats, scientists discovered that a drug already used to treat human epilepsy reduced both the number and duration of seizures.

Dr Alfredo Gonzalez from the University of Edinburgh said: “This gene that has mutated is part of a receptor that reads a neurotransmitter, which is very important for reading connections in brain cells, and this allows learning and memory to emerge.”

Rats with the same genetic change showed seizures, disrupted sleep, and a reduction in rapid eye movement sleep – all patterns similar to those seen in children with the disorder.

Researcher Katerina Hristova added: “It’s not always the case that what we see in an animal model is replicated in human patients, or at least not all of them.

“In saying that, they have been really influential in finding new therapies in drugs. Finding good phenotypes is critical to treatment and offering the patient various options.”

Colette is now a board member of a charity supporting families affected by GRIN2B.

For her, the work being done in Edinburgh offers hope for Aaron and many others living with the condition.