Genetics and Epilepsy

[momofthree]

To make a long story short, my son was hospitalized this week because his seizures changed and were hard to control. His dr. is out of town and not reachable, so we had to deal with the on call dr, in the same group. He asked why we had not had genetic testing to determine the etiology of his epilepsy, as well as testing for auto immune antibodies. Has anyone gotten their child tested and has it made a difference in treatment? My son has refractory epilepsy and although we have some control we are not fully controlled and he is nearing the end of his lamictal range, Lamictal is the second drug and statistics show that the rate of being seizure free goes way down if not controlled in the first 12 months on the first one medication! I am a scared mama! Finally, if you have had genetic testing, and it positive, have you checked your other kids who are currently not diagnosed with epilepsy?

 

[Nakamova]

At this point I don't think it's standard operating procedure to do genetic testing right away. It's still a relatively new field in terms of the implications of any particular results. You might find this link helpful: http://www.epilepsy.com/epilepsy/newsletter/june10_genetic

As well as this thread from the CWE archives:
http://www.coping-with-epilepsy.com/forums/f23/dna-testing-epilepsy-17867/

 

[jimj]

I can only speak from my experience as a dad of a daughter with Dravet syndrome caused by a mutation in her SCN1a gene.

Genetic testing (usually) makes a big difference for Dravet syndrome (DS) kids. There are a handful of drugs that have a chance of helping DS. There are also a few drugs which are bad to take if you have DS. So in our case the positive genetic test (and DS diagnosis) has helped guide and optimize my daughter's treatment.

If your insurance will cover it (or you can afford it) I would definitely get genetic testing done. If paying for the testing isn't an easy thing for you to do, then you'll need to work with your neuro to determine if testing is worth it.

Most of the more severe epilepsies are caused by "de novo" mutations, which are brand new mutations (i.e. neither parent carries the mutation). My wife and I are both negative, so we know my daughter's mutation is de novo. Had either of us tested positive then we would have had our other kids tested. Since my daughter's mutation is unique to her there was no reason to test her siblings.

There are corner cases where the parents appear to be negative, but are really positive, but that's certainly not something you need to worry about now.