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Genetic sequencing

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 because these young parents are often in the middle of forming their families,” says one of the researchers Associate Professor Sadleir, from the University of Otago, Wellington   The study, a collaborative research project between the University of Washington, University of Melbourne and University of Otago, Wellington, has just been published in the international journal New England Journal of Medicine.   “Our collaborators in...

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 disabilities as well as horrible seizures. Previously, it was thought that EE occurred at random, but it is now known that EE is often caused by a new genetic mutation in the child. These mutations are rarely present in the parents, so they are counseled that it is unlikely that they will have a second child with EE.   New ways of sequencing the human genome mean geneticists and genetic counselors have much more to say to parents who wonder if future ...

A new DNA test will look for 190 diseases in your newborn’s genetic code

But not all parents may want to know the results. Using a swab of saliva from a newborn’s cheek, a new DNA test will probe the baby’s genes to search for 193 genetic diseases, like anemia, epilepsy, and metabolic disorders.

New genetic test can predict adverse reactions to epilepsy drug

A study led by researchers at RCSI (Royal College of Surgeons in Ireland) has identified a new genetic test that can be used to predict if a patient with epilepsy will develop an adverse reaction to a common anti-epileptic drug. The finding will help inform doctors to prescribe the safest and most beneficial treatment for patients with epilepsy. The study is published in the current edition of the journal Neurology. The research has identified a genetic factor that can be used to predict whether a patient with epilepsy will develop a rash in reaction to a common anti-epileptic drug called phenytoin. Phenytoin is used worldwide and is the most commonly prescribed anti-epileptic drug in developing countries.

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 cerebral palsy”. They didn’t think she had epilepsy and even suggested her attacks “might be psychological”.

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