Genetic basis of epilepsy

Do you think learning more about the genetics of epilepsy would help patients?

  • Yes

    Votes: 74 70.5%
  • Unsure

    Votes: 17 16.2%
  • No

    Votes: 14 13.3%

  • Total voters
    105

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My mother had Epilepsy as a child which she outgrew in her teens. I do not have Epilepsy but my daughter does.

A geneticist can order an epilepsy panel, it's just a blood test but it takes several weeks to get it back.


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AngelaVA, are you going to get the blood test? Let us know the results.
 
AngelaVA, are you going to get the blood test? Let us know the results.


I'm going to ask about it since we are supposed to see the geneticists once a year anyway on another matter. We won't see him again until fall though. Apparently this panel has only been available the last two years so it is a new thing.


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Yes

Finding out about my faulty genetics (mutation of SCN1A and a de novo mutation of PCDH19) has helped a lot. It determined what AEDs would have more of a chance of working, it helped me understand why certain things set off my seizures (I'm 19 and I still have febrile seizures).

As well as that, finding out about the PCDH19 mutation explained a few of my other conditions. For example, females with PCDH19 tend to have ADD/ADHD, OCDs, Anxieties, intellectual delay and language delay (all of which I've been diagnosed with).

There are so many reasons why more work needs to be done in exploring and finding out what genes can cause or effect epilepsy. Better AEDs can be made that can interact and compensate for the faulty genes.
 
For me it was Injury all the way . But as long as you don't try to take advantage of anyone or interfere with the Meds they get , maybe not .
 
Are Genetics Important

Doing genetic testing MAY help SOME people. But, until a more complete understanding of the brain is reached, and it is learned how to treat any problems that may occur in a person's brain, the best place to go for answers is the people who actually have E. The 'experts' can give out all of their 'test results' and speculations, but the people w/E are the REAL experts. These people who actually have E are the the people who, in many cases, told these doctors about what was happening in their own cases and the doctors are just repeating what was told to them by their patients, even though they only talk about what, in many cases, fits their past statements about E. This is along with the fact that many times patients w/E don't tell their doctor about everything that has happened, whether it may be positive or negative!:idea:

ACsHuman
 
Here is my update: the panel was not helpful and didn't find anything despite a family history of epilepsy. So in our case it wasn't worth doing the testing. I think the science of generics is still really at early stages, even when we can clearly see a generic predisposition to something, we still can't verify it in the genetics lab.




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Here is my update: the panel was not helpful and didn't find anything despite a family history of epilepsy. So in our case it wasn't worth doing the testing. I think the science of generics is still really at early stages, even when we can clearly see a generic predisposition to something, we still can't verify it in the genetics lab.




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I agree, the science of generics still has a long way to go for some concrete answers for certain health issues.
 
Doing genetic testing MAY help SOME people. But, until a more complete understanding of the brain is reached, and it is learned how to treat any problems that may occur in a person's brain, the best place to go for answers is the people who actually have E. The 'experts' can give out all of their 'test results' and speculations, but the people w/E are the REAL experts. These people who actually have E are the the people who, in many cases, told these doctors about what was happening in their own cases and the doctors are just repeating what was told to them by their patients, even though they only talk about what, in many cases, fits their past statements about E. This is along with the fact that many times patients w/E don't tell their doctor about everything that has happened, whether it may be positive or negative!:idea:

ACsHuman

It may be ok for those who have their voice to speak out but what about those who have to figure out stuff for some one else?

It requires flexibility and openness to information that may be relevant in their personal quest to help the other.
 
I trying get genetic testing on my daughter had it done 32years ago but things have progressed I been told NHS on it knees not chance having it done.I thought last thing I could do make life easier for her but some tit of a doctor told me I doing it to apees myself...
 
I recently went to a symposium on epilepsy at a university. There was discussion of different genes and how they related to epilepsy, hereditary, migraines with aura and heart conditions. It was very interesting and is being studied very intensely by this keynote speaker. His name is Jeffrey Noebels MD PhD. He is with Baylor College of medicine in Houston Texas. The talk was called "the genetic borderland of epilepsy: a novel Gene mechanism linking Epilepsy, migraine and sudden death.
 
I recently went to a symposium on epilepsy at a university. There was discussion of different genes and how they related to epilepsy, hereditary, migraines with aura and heart conditions. It was very interesting and is being studied very intensely by this keynote speaker. His name is Jeffrey Noebels MD PhD. He is with Baylor College of medicine in Houston Texas. The talk was called "the genetic borderland of epilepsy: a novel Gene mechanism linking Epilepsy, migraine and sudden death.

Symposiums are fantastic to attend to open the mind to what is possible.
Great stuff!
 
Funny I should stumble across this, as I've recently had a second round of genetic tests done. The first looked only at sex chromosomes, and those turned out to be screwed up, but the doctors suspected further abnormalities due to the long-running thread of autism, psychotic disorders, migraine, and mild epilepsy in my family. I had a letter yesterday from the genetics clinic, which I opened on the spot to get any potential bad news over with, but all it said was that it'd take another two months for the results to come back. I am very tense, I must admit, but at least I know the phenotype well enough not to be bothered too badly by the genotype.
 
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