Epilepsy genetics

[Thingsthatgo]

My DSis has epilepsy - she only has a seizure after drinking a lot combined with bad sleep. She hasn’t had a seizure for many years because she made some lifestyle changes to manage her condition - she doesn’t take medication.
Recently my two nieces (both daughters of my other sister) have been diagnosed with epilepsy- they both started having seizures within a couple of years of each other. They only have them on waking up and the doctors (not in the U.K. in case that makes a difference) have said that they will still be able to drive because they will be able to manage the condition by not driving within a hour of waking.
I have read that epilepsy can be genetic- is there anything I should do with regards to my own children? Are there any tests they can do, or is it just a watch and wait thing?
My DSis says that as her epilepsy presents differently from our nieces there isn’t a genetic link, but I don’t know where she got that information from.
Does anyone have any experience or knowledge they can share with me?

I believe there’s a link. SIL has it and so does DS. Mild and both can drive. I’m not sure if there’s anything you can do now.

If they are prone to seizures on waking and triggers include alcohol and poor sleep, have they been diagnosed with Juvenile Myoclonic Epilepsy?
https://www.epilepsy.org.uk/info/syndromes/juvenile-myoclonic-epilepsy-jme

Regards presentation, it depends on the individual, take 1000 people with JME or any one of the group of related syndromes and we will all present differently in some way or another.

Epilepsy is a bit of a blanket diagnosis. It would help if you are looking at genetics to know what exactly the diagnosis was as not all epilepsies are genetic by a long shot.
This link is older but has something about genetics https://www.epilepsy.com/what-is-epilepsy/syndromes/juvenile-myoclonic-epilepsy

My apologies, this is AI. I can’t sleep (the irony being that many drugs for JME and IGE can cause poor sleep 😂) and I’m not at my laptop which would be more use.
Yes, genetic testing can be used in humans to help identify the genetic causes of Juvenile Myoclonic Epilepsy (JME) and can be helpful when diagnosing the condition, especially in children under two years of age, though it is not a standalone diagnostic tool for epilepsy. Genetic testing for JME can identify changes in genes like GABRA1, EFHC1, and CACNB4,which are associated with the condition. While JME has a strong genetic component, many cases remain to be fully understood, and further research is ongoing to discover all the genetic factors involved, according to the Epilepsy Action website and the BIOJUME research study.

What Genetic Testing for JME Involves
Blood or Saliva Sample:
A sample is usually taken for testing.

Genetic Analysis:
Scientists use different methods to find genetic changes that may contribute to epilepsy.

Specific Gene Testing:
For some, testing may focus on specific genes known to be associated with JME, such as GABRA1.

Wider Gene Panels:
In other cases, testing may involve looking at a panel of genes or even the entire genome to find potential causes.

Why Genetic Testing is Used for JME
Understanding the Cause:
It helps identify the genetic basis of JME, which is a complex genetic condition.

Diagnosis Aid:
It can aid in diagnosing JME, especially when symptoms appear in early childhood.

Treatment Tailoring:
Understanding the genetic makeup can eventually lead to more personalized treatments for JME.

Important Considerations
Not a Sole Diagnostic Tool:
Genetic testing alone cannot diagnose epilepsy; it is used alongside other tests and clinical information.

Genetic Counseling:
A specialist or genetic counselor may be involved to help you understand the results and their implications for your family.

Ongoing Research:
While some genes are known, research continues to find more genetic causes and factors contributing to JME, notes the BIOJUME study.

Definitely check out Epilepsy Action’s website and the study mentioned. Give them a call. They are excellent.

Not driving for an hour after waking sounds seriously dodgy. That is a very, very specific timespan in which to pinpoint when a seizure may occur, given that the girls don’t seem to have been diagnosed very long.

I don’t drive. In the UK you normally need a clear year, although I believe it is different if you have nocturnal epilepsy.

Hope that helps.

@SpencerTheRoverthank you for all that information, its really kind of you to take the time to answer. It definitely sounds like JME but my sister lives in another country, and the information is all in another language, so some things are getting a bit lost in translation!

If your DS has sent any information have you tried putting it into Google translate or DeepL?DeepL (deepl.com) is supposed to be more accurate and it does translate more scientific/technical stuff more coherently than google, but I forget how long the free trial is.

Also if your DS was ever on medication although she isn’t now, the type of medication may help to (possibly) indicate whether the likelihood is that she has JME. Put it this way there are certain epilepsy drugs that can exacerbate seizures that occur with JME.

The gold standard used to be Epilim, with 90% control at monotherapy, followed by Lamictal (UK brand names). Then because of the implications of the teratogenic effects of Epilim, it wasn’t prescribed to women of childbearing age, things later changed and it wasn’t prescribed to men because of the effects on sperm motility.

You need two independent neurologists to confirm that it is the best drug for your type of epilepsy and lots of fun hoops to jump through to remain on it, unless you are over 55, then, male or female, you can be prescribed it. I hid from my neurologist until I was 55.

Other meds like lamictal, next best thing, are used. Also Keppra (why? really why what were they thinking! I’ve even read scientific papers that carefully word that as a dalliance with a doomed venture), and Lacosamide (never ventured there), to name a few.

If your sister was ever on any medication and and if you have any information, even if it is in another language, DeepL might be an option for you.

Good luck

DD1 has Lennox Gastaut syndrome and a cortical focal dysplasia. She had genome sequencing as part of the 100,000 genome project. They told us, they looked at about 1,500 genes, looking for ones associated with epilepsy and didn’t find any. They did find a gene variant, that causes a different ultra rare pathogenic syndrome in her.

As a part of that, they did our gene testing, and looked at another 1,200 of her genes. We were both carriers of the same gene variant as she has. They still didn’t find any genes associated with epilepsy.

We assume she suffered a de novo neuronal migration disorder.

You seem well informed. DS has JME, and is desperate to come off the meds. He had one seizure when he was 17 and no more in 9 years. He’s on 150mg lamictal per day. His consultant said best to stay on it but his aunt weened herself off it 25 years ago and no further issues.

Are you on the meds for life? Thank you x

Yes, I have been on medication since I was three when I was diagnosed.
I was taken on a shopping trip to Edinburgh on a sunny day. The sun was flickering through people walking along the streets (I was three, it wasn’t a great view). I started to get myoclonic seizures and my mother told me to stop jumping (she must have felt the jerks as I held her hand).
They got worse, my mother became more annoyed, next thing I woke up in the Royal. Fun times.
Because of this particular trigger, I am pretty much stuck on meds to raise my seizure threshold to normal levels. Although living in rain sodden Scotland might be considered as eliminating a high percentage of that risk 😂

The important thing that you have to consider with DS is the fact that antiseizure medications have a prophylactic action. You take them to prevent something happening. So have the drugs simply been providing very good control for nine years? Or does he really not need them? This is the question you have to consider.

Why does he want to come off the meds? If it is side effects then it might be worthwhile asking about trying another medication, but then he risks his control. If it is the stigma of taking meds twice a day for a medical condition, he needs to grow up. People have to cope with an awful lot worse to manage chronic medical conditions.

Was he diagnosed with only one seizure? That is possible? What did his MRI/EEG show?

My information here is dated but when I looked at success rates for coming off medication the time spans for being seizure free that were studied were 3 years, 5 years and 10 years, with ten being most successful.

Also, there were criteria for success; in the main the successful candidates were:
on one drug (monotherapy)
only took one type of seizure ( you would need to clarify this with a neurologist, for instance, ‘generalised seizures’ are a type, it means the whole brain is involved. But generalised seizures encompass tonic clonic seizures, absence seizures, myoclonic seizures. If generalised seizures are counted as one type, I take one type of seizure, if specifics are needed, then I take two (TCs and myoclonic seizures). I’m not entirely sure on that one.
There were also criteria regarding whether there was a history of febrile seizures or if your MRI was normal or showed an underlying cause for your epilepsy.
Check with a neurologist. Not mumsnet.

All this information is remembered from studies back in 2016 and I’m sure things will have moved on.

This may be helpful. The page discusses withdrawal and lists the risk factors and has a link to a questionnaire that predicts potential success regarding coming off antiseizure medication at various stages based on the criteria that you submit.
https://www.ilae.org/journals/epigraph/epigraph-vol-22-issue-1-winter-2020/can-seizure-free-mean-medication-free-the-evidence-and-a-debate

http://epilepsypredictiontools.info

also this is another paper that has a link to that questionnaire

https://pmc.ncbi.nlm.nih.gov/articles/PMC8075746/

Here’s the BMJ’s take if you want to splash out some cash. Or have other means….
https://dtb.bmj.com/content/41/6/41

I’m not that well informed I simply got very good at looking stuff up at uni and have swallowed a lot of epilepsy meds.

Good luck.

Regards his aunt, basically at first glance this looks like ‘family history’ but there was too much maths in genetics for me to excel at it. The brief information that you give me on her doesn’t tell me when she was diagnosed, how long she was symptomatic, how many seizures she had or what dose of Lamotrigine she was on before weaning herself off it.

I can’t condemn her, I titrated myself off brivarecetam and back on to valproate once when I couldnt contact my neurologist.

That is so incredibly helpful thank you.

I will pass it to him to read through too. His reason for wanting to stop is that he wants to go travelling for a year and thinks needing the meds to be prescribed every month will be a barrier to this. Even if he could take a year’s worth with him he’s unlikely not to lose some of them.

Thanks again for taking the time to reply x

He needn’t come off his meds. He just has to do his research and be well organised.

The most I managed to fenangle was 4 months but I wasn’t going anywhere exotic.

This is a link to a website by the Epilepsy Society on travelling with epilepsy:

https://epilepsysociety.org.uk/living-epilepsy/travel-and-holidays

This is Epilepsy Action

https://www.epilepsy.org.uk/living/travel-advice-for-people-with-epilepsy

There is also a thread on Reddit you might want to join
https://www.reddit.com/r/solotravel/comments/1hq876m/dae_solo_travel_with_epilepsy_long_term/

Hope that helps.

@HelloHattie coming off meds isn’t something he can do quickly. I don’t know when he wants to travel but titrating someone off epilepsy medication is done very slowly. He may find it takes far longer than he initially thought. Also, not everyone who comes off meds remains seizure free. I know two people from a forum who went back onto medication.

Considering the time taken to come off medication, and the interim period waiting to see whether it is a success (how long do you wait?), does he also want to put his life and travel plans on hold when he appears to have good control now.

I hope he has a fantastic trip and I’m hugely jealous. Year after year in my late teens I put off working in America over the summer because of much the same/ similar issues. I really regret it now.

I’m a bit late to this conversation so I apologise. My DS started with tonic clonic seizures in December, diagnosed in Jan.

Its interesting to hear others stories and information and the difference between countries and guidance. My son (almost 17) was looking forward to starting driving lessons next month, all seizures seem to be linked to waking, happening within 10-15 minutes of waking up. He has been told in no uncertain terms that he cannot drive until he has been seizure free for a full 12 months, so its shocking to hear others have been told they can still drive after an hour! We are in the UK.

With regards to weaning off the meds we were told that once you are seizure free for at least 5 years you can opt to try and wean off the drugs if you like, however if things like driving are important to you then they advise that you don’t take the risk if they are working and remain on them for life. This is because in the UK if you choose to wean down you cannot drive for 6 months whilst doing so incase your seizures start back up. If you do have a seizure during the weaning process you are then back to square one and you go back to not being able to drive until you are 12 months seizure free again, meaning that testing it out could potentially lead to another 18months - 2years of not being able to drive. My son is also training to work in electrics so it could have career implications so is definitely not worth the risk.

Yes, we find seizures are linked to sleep cycles, particularly approaching waking - DD’s nocturnal seizures tend to occur from 5 am onwards. OTOH, it could be hunger after the long night’s fast, or in her case, the previous dose of meds wearing off, before the next dose is due at 8.30 am? We give her the morning meds and a snack in bed, otherwise she could have a drop attack within minutes of getting out of bed!

@GlitteryUnicornSparklesyes, I am as shocked too. Much as I love DSis, she is prone to fudging the truth, so I often take what she says with a pinch of salt.
I am very surprised that the doctors (in a European city) are happy for her DCs to drive. Her eldest has just passed her driving test.