Study identifies genetic cause of severe seizures in children

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Study identifies genetic cause of severe seizures in children
BrainEncephalopathyGene
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Shortly after Kelly Cervantes' daughter Adelaide was born, she started having terrible seizures. Doctors were unable to give her a solution, or even a cause.

McGill UniversityAug 28 2024 Shortly after Kelly Cervantes' daughter Adelaide was born, she started having terrible seizures. Doctors were unable to give her a solution, or even a cause.

"She never really progressed past about a three-to-six-month physical development, and we're not entirely sure where she was intellectually. She was incredible but her life was really challenging and really hard." Related StoriesThe scientists analyzed samples from Adeliade and 21 other people with the condition. By growing stem cells in a dish using the participants' genetic code, the scientists found that mutations in a gene called DENND5A create disfunction, and this disfunction stops brain cells from dividing properly during development. The result is a developing brain with less stem cells, shortening the crucial time period that the brain forms as an embryo.

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Brain Encephalopathy Gene Genetic Mutation Research Stem Cells

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