Category: "Genetic sequencing"

Research reveals new insights into severe childhood epilepsy

Research reveals new insights into severe childhood epilepsy

Genetic research reveals new insights into severe childhood epilepsy   In a new study on children with severe forms of epilepsy, researchers have found the genetic copying mistake that causes the severe epilepsy in children can be found in their parents who do not have epilepsy.   “The research findings are important for reproductive counselling […]

Detecting mosaic variation in parents improves genetic counseling

Detecting mosaic variation in parents improves genetic counseling

Mosaic variations in the cells of a parent may explain why childhood epilepsy strikes twice in some families   Advances in genetic testing offer new insights to parents who have a child with a rare but serious form of epilepsy, epileptic encephalopathy (EE), found in one of about every 2,000 births and characterized by developmental […]

Epilepsy Myth

Epilepsy Myth

Myth: No medical tests can determine if a child will develop epilepsy in the future.   Truth: This is false. Epilepsy is a nervous system disorder that is seen among many children and young teens. Although epilepsy can be treated with medications, young children with epilepsy are more likely to have a neuro-developmental disorder that […]

DNA test pinpoints cause of teenager’s epileptic seizures, allowing for proper treatment

DNA test pinpoints cause of teenager’s epileptic seizures, allowing for proper treatment

After years of being told seizures were “just in her head”, a young Australian girl has finally learned what was causing her mystery illness.   DNA sequencing technology was able to confirm 17-year-old Teresa’s condition was due to a defective collagen gene.   But for years a number of doctors had diagnosed her with “mild […]

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