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What's the Genetic Cause of Epilepsy?

Learn about the genetic cause of epilepsy from Steve Wolf, MD and Patty McGoldrick, NP in this Howcast video.


There are a bunch of different causes of epilepsy and there is a lot of research going on about this. The biggest being the human genome project. What we're seeing a lot of is syndromes that present in infancy or in young childhood. Where we realize that there is a genetic component and then we can test for that. The biggest one being scn1a. I think what important is if you have child who's having, or even an adult who's having uncontrolled seizures or a unique type of seizure. Is to have a conversation with your doctor of is it time to a genetic evaluation. Should we be looking at the genes to so if it could give us some clues on how to treat the seizures and if we know what type of gene defect it is would it tell us the future of what to expect and how to help the patient. Right so better look at the prognosis so that the parents and the family knows what to expect going forward. Again the goal is always still to reduce the seizures, but if we know that there is some genetic component we can tell long term what percentage of ability we're gonna have to control those seizures. Now you mention scna1 gene and why that's one's important because if you detect that gene we know we shouldn't use certain types of medications because those medicines aren't going to work in those patients. But yet these tests are expensive. Tests are very expensive. There often not covered by insurance. We're trying to get them better covered so we can do more testing. They're certain ones that link children, especially girls with mental retardation to intract epilepsy. There genetic tests for that. There's the scn1a which is distinct syndrome that is diagnosed, but by both the way the seizures look, by the EEG and then by the genetic testing. So really our future will be doing genetic testing early on might really help us to decide how to treat a child and what to warn the parents. And the problem now is that a lot of the genetic tests come out as abnormal but we don't know what the significance is because this may be the only child ever noted to have this defect on their genes. So we do the genetic testing, it helps us to determine prognosis, it helps with diagnosis and it helps also with treatment.

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