Study Identifies Genetic Cause of Severe Seizures in Children
August 28, 2024
Article Published by News Medical
Shortly after Kelly Cervantes’ daughter Adelaide was born, she started having terrible seizures. Doctors were unable to find a solution or even a cause. “We never had an overarching diagnosis for her, which was extraordinarily frustrating and isolating. If we did, we could have joined groups or talked to people who had various symptoms in common. We also had no idea what her prognosis looked like, or if we could have other children,” said Cervantes, the immediate past Board Chair of CURE Epilepsy. Over time, Adelaide’s condition worsened and sadly she died five days before her fourth birthday. Cervantes had enrolled her daughter in a research program for people with undiagnosed illnesses, and following her daughter’s death she got a call asking if she’d like to participate in a study being conducted at McGill University. The research team conducting the study analyzed samples from Adelaide and others with mutations in a gene called DENND5A. The scientists found that mutations in this gene stopped brain cells from dividing properly during development. The result is a developing brain with fewer stem cells, shortening the crucial time period that the brain forms as an embryo. The finding provides answers to families of people with this rare genetic condition. It also allows family members to be tested for the mutations so they can make informed choices about family planning. “Maybe someday down the road, the next Adelaide will have a treatment, and there will be an answer for that family. And how incredible is it to think that my baby girl had a hand in that,” Cervantes said.