Saturday, February 1, 2025

Discovery gives answers to parents of children with rare neurological gene mutation

MRI images of people with epileptic encephalopathy. Credit: The Neuro Shortly after Kelly Cervantes’s daughter Adelaide was born, she started having terrible seizures. Doctors were unable to give her a solution, or even a cause. “We never had an overarching diagnosis for her, which was extraordinarily frustrating and isolating,” she says. “If we did, we could join groups or talk 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.” Over time, her condition worsened and sadly she died five days before her fourth birthday. Read More

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