Genetic basis of epilepsy

[Geneticist]

Hi,

I'm from a research group that is interested in using new technologies to try and find out more about the genetic basis of epilepsy, for example in patients who have had a thorough clinical work up but existing tests have failed to find an underlying cause of the condition. We were hoping to get some opinions from patients about whether you think understanding more about the genetics of epilepsy would be beneficial, how you think it would affect you, how you think it would affect the way epilepsy is thought of, etc.

Any ideas/comments/suggestions to help us in designing our study would be really useful!

Thanks!

 

[Fedup]

Hi

I do not mean to be rude, but do you know anybody other than an epileptic who understands or knows anything about epilepsy, I have given up trying to explain it and remove the stigma attached, when you do this then you will know what its affects are

 

[Loopy Lou]

Hmm... i'm one such person.

There has been no underlying cause found for my epilepsy but it is something which runs in my family, especially on my dad's side.

Knowing wouldn't change how i deal with my epilepsy or the fact that i have it to begin with but it would certainly be interesting for me to know.

 

[epileric]

When researching such a topic I feel you should also look at people who could find no cause for their epilepsy until much later in their life.

I think that would give more information on how to correct the fallibility of our diagnostic machines & diagnostic techniques.

I say this because I was born with idiopathic epilepsy yet it wasn't until I was 39 that a lesion on my hypothalamus was discovered and we are now assuming that is the cause of my seizures.

I had been able to accept that my seizures were idiopathic & I can say that finding the cause made little difference in how we treat my seizures however I do feel that understanding the genetics of not just our pathologies but our whole bodies is important. When we have such a large amount of information being thrown at us from so many sources (especially online) not all of it is accurate and much of it conflicts. I think if people understood the physiology (of both their pathologies & bodies) better then it would be harder for quacks to find suckers or even for medical individual to make mistakes or mislead people.

As well, I think there would be great satisfaction in understanding how our seizures work.

 

[Bernard]

I'm from a research group that is interested in using new technologies to try and find out more about the genetic basis of epilepsy, ...

Any ideas/comments/suggestions to help us in designing our study would be really useful!

For context (to the members here), here is an example of the impact of some genetic research:

http://www.coping-with-epilepsy.com/forums/f22/first-gene-discovered-most-common-form-epilepsy-5679/

I am definitely interested in seeing more research done on the brain development aspect. I believe that technologies that help the brain normalize development (like EEG neurofeedback) can be very helpful for cases where genetic conditions gave rise to developmental impairments.

 

[kostareyna]

I don't think it would affect us in any way or help to change the thoughts about it, in-fact sometimes information can suck. I found out that my photosensetivity which is uncommon for a male with JME comes from a specific gene which can only be found in south american males ( my father is south american) so this info din't help me' it actually made me feel worse about my destiny.

In my honest opinion it could solely help the scientific community. If they will know more about the genes and their relation to the different parts of the brain
new and improved drugs would be available or maybe even some kind of removal process of the defected gene before it starts "doing its thing".

as you may know some of us start to have seizrues only in our teens like in juvenile myoclonic epilepsy and nothing happens until a certain age, life just suddenly changes forever! so yeah, finding a way to prevent it by studying the genes would be great and that would be the only true thing that would affect us.

 

[wiggles1]

My mother had an aunty who was epileptic. On my dads side he had a obsessive compulsive/panic disorder. I got bad genes from both parents & I don't really believe the epilepsy is the huge problem thu I have lots of grand mal seizures. I believe these seizures are brought on by anxiety, thru my parents panic they shoved me on drugs at 5 year old. I am going to investigate getting off some of my heavy dose and on to anti anxiety meds.

 

[DayDreamer]

I think genetic research of many diseases/condtitions would help. Down syndrome, affected member and families were viewed in a very different light before genetics were approached.
I would like to find abnormailies that everyone else shares with me who has a similar seizure type. It would be nice to discover things that are hard to test for within my skull/central nervous system during my life. My DNA might tell that I don't properly use enough of a certain neurotransmitter and show which one or future ones would be best.
It may even show that in order to prevent epilepsy from occurring in some people we should test for certain cns chemicals and keep them 'normal' once we approach that.

 

[wiggles1]

DayDreamer,..I never really thought about things earlier it's just over the last 5 or so years my life has changed,.. the more tension, anxiety or stress I feel the worse the seizures. My husband said some of them are where i am in state of anger while in the fit.?? He did record me on a couple occassions and they dont look stable. Though I cant tell when I'm going into a fit. I was treated bad as a child reminded I should have been a boy and i was a girl by mistake, thru to things like you can never be as good as your brother. These child taunts from my mother never made me feel good, and she could never commit to the possibility that there was a tie with the epilepsy on her side of family (her aunt) I also have a father who suffers a pannic dissorder checking and counting things all the time. Reckon this is why I suffer high anxiety and my fits seem linked in with anxiety.

 

[Jake]

The genetics of epilepsy I believe would be very beneficial.

It may help the stigma by providing patients more information to dispel the many myths of Epilepsy.

 

[SassySarah]

I am interested in the causes whether genetics or injury, medication/food reaction whatever. In my case I have been dealing with seizures over a year. They are poorly understood in the medical community if an EEG doesn't pop positive which is a very poor diagnostic tool.

I had a small group of neuro/psych/epil/movement specialist all at a top hospital explain we truly have a strong knowledge of maybe 5% of the brain the rest of it is here and there sometimes minimal.

Any study that could increase this in regards to epilepsy would only help us. I know talking to my grandmother (now that I have finally been diagnosed) that she recalls someone her generation possibly even an aunt to her- having what her mother referred to as fits. The fits were why the aunt or cousin didn't move out west following gold as much of the family did- wasnt safe

Sent from my DROID RAZR using Tapatalk 2

 

[acpollard2010]

ok one i agree with brain partly on this an 2 i was for genetic testing til a friend of mine had her son go through the ringer and they go broke cause a dr. said genetics were to blame and may find a answer like people have said it wont change the fact that we have epilepsy say mines inheridited from my dads side he's dead know way to know for sure.its a real high % that cause is unknown my dr said he was just guessing cause no head trauma.

 

[Pip]

I agree it would be of great value - to me anyway - knowing how seizures work...
I have had E since I was a child...but not picked up until recently....I am just coming to terms of having E ... I am aware of the astigmatism surrounding E and don't know how it will impact... with me.. .can anyone tell me how having E impacts on them? ie how do people pursive them has it has an effect on how people treat them...I am calling my seizures... terns...as I think that sounds better ...

 

[moongal]

Well my mam had epilepsy, she grew out of it and the largest seizures she got were the myoclonic jerks, and on my dad's side my cousin has epilepsy. So there is quite a background there for me, I think the more we know about epilepsy the better. Goodluck with your research

 

[Autumn Breeze]

My biological father has seizures, they started when he was 12, but he hasn't had one since 1999.

Mine started earlier this year (2012).

 

[lucycherish]

i think it would be very helpful, im adopted so had no family history to go on and it took ten years to diagnose me, there are a few factors which i think could play a part in my epilepsy though, my 'birth mother' overdosed on epilepsy medication while pregnant with me and then thought she would try to smother me at 17days old, my sperm donor 'birth father' also suffered convulsions, i had no access to any records until i was 18 and gaining access isnt as easy as it sounds, i would like my genetics testing to see if im carrying a particular gene or something which may cause it as i worry an awful lot about my own daughter who is now almost three, i dont want her to have to go through what i did, the bullying in school, the stares in the street when i had uncontrollable twitches and at one point a 'doctor' calling me an attention seeker...wonder if she found that in her medical dictionary! i will support any form or research on epilepsy and intend on raising funds for such research once i have sorted myself out x

 

[Havok]

I don't want to complain, but if I'm confused, there's likely someone else confused. Your question is badly worded.
It can either mean, "Do you think it's good to do more research so more is known about the disease?"
Or it could mean, "Do you think it's good to educate the patients and general public about the possible underlying genetic causes?"

Do I think there should be more research? Of course. There's no downside to more research of any subject.

Should people or the general public be more informed? Yes and no. Some people just won't understand it, and it'll be a lost cause. Some would love to have the information, though it's iffy because it's difficult to judge what a certain person/group might know.

 

[arnie]

My dad had a few years when he was on tegretol for some sort of seizure activity. I don't know a lot of details because I was kind of young and didn't have siezures myself then, so I didn't think much about it. (I actually was having partials but didn't know what they were.) Also, my mother's brother had epilepsy, and my oldest daughter (I have 3 kids) has epilepsy. Hers started when she was about 23, which is when I had my first witnessed GTC and started on meds.

 

[Chaz1]

Neurotransmitters - Dr. Tent (worth a watch)

 

[DayDreamer]

After the beginning of this video this man felt like a snake oil saleman or a new relgious leader and uses propaganda to get peoples attention. (THIS IS MY PERSPECTIVE ONLY. I AM ALLOWED TO BE AN ASS) He definitely believes whatever he speaks and he has followers. I tried picking a few advanced points in the video but came across nothing relevant to this thread: genetics, epilepsy, or seizures. If anyone knows where it is, please point it out.

With science it is good to keep an open mind and argue both sides. Science is built on observation and continually changes. Faith/belief is different than science.