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genetic testing for epilepsy

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 ...

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 creates epilepsy. As such, a recently published study has shown a genetic test that can prescreen young children for epilepsy to ensure that their physicians can decide on the most effective treatments for these individuals to promote healthy brain development.

Genetic Testing Can Help Pinpoint Epilepsy Earlier

A new study supports routine genetic testing for epilepsy in young children with seizures. “Precision medicine means nothing without precision diagnosis, and we can now provide precision diagnosis,” said study lead author Anne Berg, of the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago.

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