DNA Testing and Epilepsy

Dignan

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I've been reading alot lately about how DNA tests can help pinpoint which medications are likely to be most beneficial to a person with seizures while causing them the least amount of side effects.

I wanted to know if anyone on this forum has utilized such an approach and if they found it to be helpful?

Any other DNA testing out there relevant to epilepsy?
 

KarenB

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Dravet Syndrome is a type of epilepsy, which begins with febrile seizures in babies under 1, in which most of those afflicted have a specific gene mutation. With this type of epilepsy, certain medications (Trileptal, Dilantin, Vigabratin, Lamictal) actually make the seizures worse, while other medications (Depakote, Topomax, Keppra, benzos) along with the Keto diet are more helpful. Thus it is important to make a correct diagnosis with these children, to avoid giving the wrong med, and why genetic testing is done.

Tuberous Sclerosis is a genetic disorder that causes tumors to grow and causes seizures. For this conditoin, Vigabratin is usually the preferred med, and the Ketogenic diet has a high success rate with controlling seizures in these children.

Those are the only 2 types of epilepsy of which I'm aware with a genetic link, but perhaps there's others out there.
 

Andrew

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Vitamin B6 Dependent Epilepsy.

Pyridoxine-dependent epilepsy

involves seizures beginning in infancy or, in some cases, before birth.
In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.
Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 cases have been reported worldwide.
Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine
Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy.
http://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy

Pyridoxal 5'-phosphate-dependent epilepsy

involves seizures beginning soon after birth or, in some cases, before birth.
Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, individuals with this type of epilepsy are medically treated with large daily doses of pyridoxal 5'-phosphate (a form of vitamin B6).
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature.
Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy.
http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy

The seizures may be all types - myoclonic, clonic, tonic, tonic-clonic or even infantile spasms.
http://www.epilepsy.org.uk/info/syndromes/pyridoxine-dependency

My story:

http://www.coping-with-epilepsy.com/forums/f23/40-years-vitamin-b6-11674/

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**
 
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I wish they would utilize more unique approaches like this. I just read an article last night about the 7-layer MRI's. I can't believe people without a clear seizure focal point are not informed about that test. It can mean all the difference in finding the smallest scars. A possible permanent fix.
 

cazzy

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i never hear of 7 layer mri,i think it time i see dr for myself and daughter thanks for info
 

DayDreamer

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This below is an article from epilepsy currents last year, Genetic Testing in Epilepsy: What Should You Be Doing?
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152152/

There is also a long pdf titled Molecular genetics of the epilepsies available on www.epilepsysociety.org.uk which I can only post as the whole paper which I assume would be unwanted. It lists quite a few genetic epilepsies, sixteen, which have been identified, and defines them.

I have participated in the epilepsy phenome genome project with hopes of them making headway in interpreting results and it benefitting all of us within our lifetime. There are many different genetic research projects being done.
http://www.epilepsygenetics.eu/links.html

I asked my neurologist a year ago whether a dna test positive or negative would make a difference in therapy for me and was told it wouldn't. Hopefully times have changed or will shortly as it looks like the international league against epilepsy has lots of genetic classes for doctors coming up.
It would be nice to find that lots of people with my type of seizure have some simple allergy or defficiency easily cured and found by dna tests. I am a daydreamer.
 

KarenB

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I was trying to find this thread yesterday, to no avail.

Yesterday, in the Library, I posted a review by Mayo Clinic on the 5 most recent AED's. But in the same article, following the review, is a section called...Pharmagenetics (or something like that)...in which they discuss how genetic testing can sometimes reveal how someone will react to a certain AED. This isn't related to the type of epilepsy they have, I don't think.

They gave the example of the Stevens Johnson rash (potentially fatal) -- which some people get when they're on Lamictal (and perhaps a couple other drugs), and apparently, some sort of genetic testing can indicate which people would be most likely to have this horrible side effect.

I'm not sure if the genetic testing can reveal which drug would be most efficacious, but it apparently can reveal which people would be most sensitive to the side effects of certain drugs, or at least that's how I understood it.
 
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