eEF1A2 and epilepsy information

This is the homepage for eEF1A2 information hosted by Cathy Abbott’s lab at the IGMM, University of Edinburgh. The gene encoding eEF1A2 has been found to be mutated in a small number of individuals with severe intellectual difficulties, intractable epilepsy and autism. We want this to be a useful resource for scientists, clinicians and families. You can follow us on Twitter @CathyAbbottLab Twitter

EEF1A2 Patient Registry 

Thanks to AltaVoice (formerly Patient Crossroads) we have been able to set up a patient registry for EEF1A2, initially focusing on a survey on seizures. More surveys will be added over time. You can find the registry here at the Invitae Patients Information Network.

Registries are really important for research, so that we can begin to look at the different mutations and collect information on their effects. In this way we will be better able to predict which mutations are likely to be milder and which more severe. With your help, we will be able to track outcomes, pull together information about which drugs help and which don’t, and ultimately design better therapeutic strategies and develop new drugs. Registries are also used as a way of recruiting patients for clinical trials.

logo for Crossroads

 

Mutations in EEF1A2

Below is a list of the clinically important mutations we know of so far. I will keep this updated as new mutations are found/published. As you can see, many are still unique.

Mutation Number of cases

so far

Reference
T24M 1 Personal communication
G70S 6 De Ligt, Veeramah, Helbig, Lam
I71L 1 Lam
D91N 1 Lam
A92T 1 Lopes
F98C 1 Helbig
F98L 1 Lam
M102V 1 Helbig
E122K 4 Nakajima, Lam, Inui
E124K 1 Lam
A125E 1 Facebook (personal communication)
D252H 2 Nakajima, DDD
R266W 3 Helbig, DDD, Facebook (personal communication)
R382H 1 Iossifov
G384R 1 Facebook (personal communication)
R423C 1 Lam
T432M 1 DDD

Veeramah et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013;54(7):1270-81.link to paper

de Ligt et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367(20):1921-9.link to paper

Lam et al. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Molecular Genetics & Genomic Medicine 2016.link to paper

Lopes et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 2016;53(3):190-9.link to paper

Nakajima et al. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet 2015;87(4):356-61.link to paper

Inui et al. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain & development 2016;38(5):520-4.link to paper

Helbig et al poster

Iossifov  et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515(7526):216-21.link to paper

 

 

 

The picture below is a 3D model of the eEF1A2 molecule with the binding sites for other molecules colour coded. You can read more about this in our paper here.

3D model of eEF1A2

Advertisements

79 thoughts on “eEF1A2 and epilepsy information

  1. Kari

    So happy so see this site. My daughter was diagnosed with a mutation in EEF1A2 a year ago. We were told she was only the 5th in the world.

    Reply
  2. eef1a2epilepsy Post author

    Thanks very much Kari- if any other parents come across this site please feel free to get in touch, we may be able to set up some sort of discussion board if that would be of any help.

    Reply
    1. Tirza

      hi, i am writing for a good friend of mine, she does not know English. her 1 yro daughter was just diagnosed with eef1a2 ;(
      i told her I’ll contact y’all.
      we are clueless as to this mutation. where do we go from here? what do u suggest to do next?
      any info or direction would be a great blessings.
      many thanks
      T.

      Reply
      1. eef1a2epilepsy Post author

        Hi Tirza,

        I think the main thing for your friend to remember is that there’s a wide range of severity with eEF1A2 mutations, so it can be hard to predict the course for any one child. This is probably because different mutations in the same gene have different effects. There’s a Facebook group that Kari has set up- it’s in English but perhaps you’d be able to translate for your friend? That would be the best source of support from other parents, and there’s definitely some very positive stories. Good luck to your friend, and I’d be happy to try and answer any questions about the gene.

        Cathy

      2. Kari

        Hi Tirza,
        Welcome. Its hard when they are young. Where are you and your friend located? There is really nothing to do different than before she knew what the cause was. So much is still unknown. Therapies to help development and controlling seizures are the biggest things that will help. I am happy to add you both to the Facebook group if you are interested. Just leave me the information I would need to find you on there. What sorts of issues in the child dealing with? Hope to hear more from you soon.

        Kari

  3. Samantha Smith

    My 3 year old also has EEF1A2 mutation. I’m very interested in finding other families through this!

    Reply
    1. eef1a2epilepsy Post author

      You’re very welcome. I’m happy to answer any questions I might possibly be able to help with. I know that Samantha and Kari are keen to make contact with other parents, too.

      Reply
      1. Alistair Tweed

        Hi, thank you so much for coming back to me so quickly, I really appreciate it. I have many questions! 🙂 Please give me a couple of days to get to grips with the subject and I will come back to you with once I have put them into some order and I am not wasting your time with things I could have found out for myself and I am not peppering you with poorly thought through questions.

      2. eef1a2epilepsy Post author

        No problem, just take your time 🙂 I’m not a clinician, I should say, but am happy to help all I can. Incidentally, we know that there are at least four children in the UK with mutations in eEF1A2 identified through DDD, so you should be able to contact them too in due course.

  4. Alistair Tweed

    Hi Samantha and Kari, we would be happy to meet up – we live in Chelmsford, Essex. Martha is seven and we just got the diagnosis from the DDD project [http://www.ddduk.org/] via GOSH genetics department. You can get in touch with me at alistair dot tweed at portigon dot com or you can send me a friend request on Facebook.

    Reply
  5. Kari

    Hi Alistair,
    I sent you a friend request. I started a fb page for eEF1A2 but it’s not active as no one has found it yet. My daughter is 9. We are in the United States. I think the testing program they’re doing over there is great!

    Reply
  6. Alistair Tweed

    Hi, as promised, I have a list of questions and would be really grateful for any assistance you offer in helping me understand more.

    Exome Sequencing results:
    Roughly how many cases of EEF1A2 have been identified in total?
    What is the age range of the people effected?
    Are there any of them males?

    Wasted Mice:
    Please could you explain the differences between humans and wasted mice?
    Is it that wasted mice have a complete lack of EEF1A2 and human cases do not?
    Have there been any intervention studies in wasted mice to add the missing correct form of the protein?
    Are there any planned?

    Working backwards towards intervening and trying to alleviate the effects by adding the missing protein:
    Does the protein cross the blood brain barrier?
    Does the protein make it past the liver?
    Does the protein get digested in the gut or does it get absorbed without being broken down?
    Does it exist in any food sources in significant amounts?
    If not, can it be manufactured?

    The future:
    Are there any promising innovations, technologies or strategies that I should be aware of or following?
    How far off are gene editing and gene engineering technologies like CRISPR from being able to alter genomes to fix the EEF1A2 mutation?

    Many thanks in advance for your time.

    Warm Regards,

    Alistair

    Reply
    1. eef1a2epilepsy Post author

      Hi Alistair,

      Right, here are some initial responses. Some may take a bit more thought, these are all excellent questions!

      Exome Sequencing results:
      Roughly how many cases of EEF1A2 have been identified in total?
      We know of 12 so far, but this is likely to increase a lot as exome sequencing becomes the norm, and as eEF1A2 becomes included in specific screening panels.

      What is the age range of the people effected?
      In the literature the youngest reported was one, and the oldest is now in her early/mid twenties. This doesn’t mean anything in relation to eEF1A2 though, it’s a reflection of the screening programs and their emphasis on children whose families want a diagnosis. It does mean that we don’t have any information about longer term effects of the mutations, though.
      Are there any of them males?
      Yes, at least two are male- it looks rather skewed at the moment but it’s too early to deduce anything concrete, and there’s no expectation of a gender bias from the basic biology.

      Wasted Mice:
      Please could you explain the differences between humans and wasted mice?
      Is it that wasted mice have a complete lack of EEF1A2 and human cases do not?

      Yes, that’s exactly right. The mice that carry the wasted mutation (so one mutant copy and one normal) survive completely normally and have the same strength and coordination as non-mutant mice. They have no sign of seizures, either. However, we don’t know if this is because there’s a difference between mice and humans in terms of whether they can tolerate having a 50% reduction in eEF1A2, or whether the reason all your children are affected is because the mutant protein which is being made is toxic in some way. This is a crucial question that we have to answer before we can do anything else, as it goes to the heart of any treatment. If the mutant protein is toxic, then the last thing we should do is to treat with anything that increases the level of expression. On the other hand, if the epilepsy and so on results simply from a lack of eEF1A2, then replacing it would be the way forward.

      Have there been any intervention studies in wasted mice to add the missing correct form of the protein?
      Are there any planned?

      No, not the protein because it’s incredibly difficult to deliver a protein to the brain, I don’t know of anyone who has even tried this. We have corrected it genetically, but that’s not an option in humans.

      Working backwards towards intervening and trying to alleviate the effects by adding the missing protein:
      Does the protein cross the blood brain barrier?

      I don’t know of any proteins that have been shown to cross the blood brain barrier, only small peptides, but will think about this.

      Does the protein make it past the liver?
      Does the protein get digested in the gut or does it get absorbed without being broken down?

      Never been tested but unlikely to survive I’d have thought.

      Does it exist in any food sources in significant amounts?
      No, not at all I’m afraid.

      If not, can it be manufactured?
      Hmm, I guess so, although it would be very hard to make a properly folded and processed protein with current technology. Would be worth considering if there was any prospect of getting it into the brain, but I think approaches using small molecule drugs to try and upregulate normal eEF1A2 or downregulate mutant eEF1A2 (depending on the mechanism) will be a more productive strategy.

      The future:
      Are there any promising innovations, technologies or strategies that I should be aware of or following?

      Well, small molecule screens as mentioned above, and also CRISPR. I would keep an eye on what’s happening with Rett syndrome, as that’s a good example of a dedicated and mobilised body of parents and scientists working towards therapy.

      How far off are gene editing and gene engineering technologies like CRISPR from being able to alter genomes to fix the EEF1A2 mutation?
      A long way off as things stand, simply because of the problems of accessing the brain, but things are moving incredibly quickly in this field.

      I hope some of that is useful, but feel free to keep asking meanwhile!
      Cathy

      Reply
      1. eef1a2epilepsy Post author

        You’re welcome. I should have said, when I talked about wasted mice, I’m making a distinction between the mice that carry the mutation (heterozygotes, more like the situation in humans, with 50% of the normal levels, and normal survival) and wasted mice themselves, which have no eEF1A2 at all and don’t survive. That’s probably just made it worse…

  7. MrsHarper

    Hi guys. My 6month old son was recently diagnosed and I am interested in connecting with other parents. We are in the U.S. But emails can travel anywhere. My email is MrsHarper122 at outlook dot com Thanks so much and I look forward to connecting with u guys!

    Reply
  8. Keely Lewis

    Hello all – having taken part in the DDD research study – at last today we have received the EEfiA2 diagnosis four our son Arlo aged 11. We are keen to connect with other families like us – we live in Brighton UK and have lots of questions plus hopefully some info to share about our son’s experience so far. We would love to hear from you!

    Reply
    1. eef1a2epilepsy Post author

      Hello Keely,

      It’s good to hear from you. I’m sure other parents will get in touch very soon, and of course I’d be happy to answer any questions if I can be of any help.

      With best wishes,
      Cathy

      Reply
      1. Keely

        Thank you Cathy – so lovely to get a response so quickly – still absorbing the information but excited to start the journey and find out more. I am sure I will have many questions in the weeks to come. Best wishes Keely

      2. Keely

        Hi Cathy – our Son has atonic siezures – and what we call head nods and eye rolls – this is now well managed with medication but I wonder if all others diagnosed with eef1a2 all have the same type of siezure?

      3. eef1a2epilepsy Post author

        Hi Keely,

        I’m not a neurologist, but we are writing a paper about the latest case studies at the moment, and essentially the type and severity of the epilepsy is very variable. There are some children who are like Arlo, in that their seizures are well controlled, but others who have tried multiple types of anti-epileptic drugs without success, and who have tonic and tonic-clonic seizures.

        There aren’t enough cases yet to know whether this comes down to exactly what mutation different children have, but that certainly seems to be part of the story. When we look at the eEF1A2 molecule, the mutations that give milder epilepsy and hypotonia seem to be further away from all the crucial parts of the protein. Hearing from families is such an important part of the puzzle for us, so thank you all for being so generous with your time!

        Cathy

      4. Keely

        Thanks for your reply – happy to share any information that might help other families. We are so lucky to have found a medication that works for us after much trial and error maybe others with similar seizures will find it works for them too. Thank you for your help – I am so happy to find this website I thought it would be a struggle to find any information – this is an exciting day for us it is great to have the chance to make contact with other families facing similar struggles.
        Thanks again – Keely

      5. Keely

        Hi Cathy, when we received our results I included a link to this website to my FB page to help to explain to friends and family about Arlo’s diagnosis as we found your information so helpful and I am not great as explaining as still absorbing the information myself. It has also been an amazing help to us to find a way to contact other families in our situation. I hope that is OK as I appreciate it was not intended as a social forum – if you would like me to remove the link please let me know. Thank you again for publishing this information about eEF1A2. Best wishes Keely

      6. eef1a2epilepsy Post author

        Hi Keely,

        Oh, not at all, I’m delighted it’s being used in this way. I deliberately set it up so comments could be made. I have it so that I moderate commments just in case it gets spammed, but I’m more than happy for anyone to post here!

        Hope you’re having a good weekend,
        Cathy

  9. Kari

    Hi Keely. I’m Kari. My daughter Kristin is 10. She was diagnosed a year and a half ago. It’s great to meet you. Glad you finally got a diagnosis! Love to hear more… I also started a fb page if you’re on facebook.

    Reply
    1. Keely

      Hi Kari, it is so great to hear from you! I would love to join your FB page – I searched but only came up with my own post – if you search for Keely Lewis Brighton hopefully you will find me.
      Arlo is 11 and a half, funny, strong willed, happy and beautiful!! He was diagnosed with epilepsy as a baby and has severe learning difficulties. He is non verbal and didn’t walk until he was almost 6 years old – (now climbing everywhere!!). I would love to learn about Kristin – I will look out for your FB page.

      Reply
  10. Kari

    Keely,
    I’m pretty sure I found you but it won’t let me add you for some reason. I’ll try on my computer when I’m home later.

    Reply
  11. Samer Oujeil

    Hello to everyone. Talking from the UK here. My 3 week old daughter has been suffering from seizures since she was born on 02/09/2015 and me and my wife have been told today she has a deletion of 20q 13.33 chromosome. Mutations of EEF1A2 & RTEL1. She also has deletions of CHRNA4 & KCNQ2. She was born with absolutely no de-formalities. Time will tell for her development. I am yet to find any information about a patient with 4 mutation/deletions.

    Reply
    1. Keely

      Hello Samer,

      We have an 11 year old son with EEF1A2 epilepsy, we have only very recently received a diagnosis. I understand how important it is to feel you can contact other families who’s children share the same diagnosis and how lonely it can feel when you don’t know anyone who shares your experiences. It must be a very stressful time for your family, coming to terms with with having a child with health concerns and witnessing them suffer seizures is a lot to cope with I know. I am so sorry not to be able to offer any advice or experience relating to your daughters particular diagnosis.

      When we received our sons diagnosis we were given the following details of organisations who may be able to help and offer support in finding other families experiencing similar struggles. I am sorry if you are already aware of these but if not I hope they may be of some help to you.

      Best wishes to you and your family

      Contact a family have a lot of helpful information on their website.

      http://www.cafamily.org.uk

      Also SWAN UK

      http://undiagnosed.org.uk/

      which supports families without a diagnosis.

      There has been a lot of research recently and currently, families who have had many years with no diagnosis are receiving results and are newly able to give a name to their childs condition. It is possible that SWAN may be aware of specific family support groups starting up for previously undiagnosed conditions.

      Reply
  12. Kari

    Hi Samer,
    I was sure I replied to this but something must have gone wrong. It sounds like your child probably has a chromosome mutation while most of us it’s just a single gene. I think it’s great they can tell you which specific genes are affected. I started a fb group if you’re interested.
    Kari

    Reply
    1. eef1a2epilepsy Post author

      You’re absolutely right, Kari.

      It’s difficult to disentangle the effects of deleting eEF1A2 in cases like your daughter’s, Samer, because there are two other epilepsy causing genes so close by (CHRNA4 and KCNQ2, which is right beside eEF1A2). There are certainly other cases in the scientific literature, but of course the exact size and position of the deletion can vary from child to child. I hope things have settled down a bit for you, and that you are getting support- Kari’s FB group is great.

      Reply
  13. Mandi dill

    My daughter was diagnosed a month ago with a eef1a2 mutation. She is 3.5 with seizure disorder, global developmentally delay, Microcephaly, cvi, delayed myelination, thinning of the corpus callosum, low muscle tone, and feed difficulties.

    Reply
    1. eef1a2epilepsy Post author

      Hello Mandi,

      Thanks for your post – I think you’ve already found the Facebook group where I know you’ll get lots of support but feel free to ask any questions here too and I’ll do my best to answer them!

      Cathy

      Reply
    2. Stuart

      Hi, our son Noah has tested positive for mutation of the EEF1A2 gene.
      Very similar symptoms as your daughter.

      Reply
      1. eef1a2epilepsy Post author

        Hello Stuart, glad you found the website. Kari has set up a Facebook group as you may have seen, with lots of shared information.
        Best wishes to you and Noah,
        Cathy

      2. Sam oujeil

        Just an update regarding my daughter. So after 9 weeks from leaving hospital without any seizures, they began once again with 2 a day for around 2 weeks, we upped her meads of Topirimate and she stopped. Since then we have discovered she also cannot break down milk proteins and is now on Nutrimigen, she is a different baby. She has lots of gene deletions including EEF1A2 and RTEL1 but is flourishing. She is currently showing no signs as of yet in developing her instincts. She is rolling over, playing with toys, eating well, not talking much but sometimes, focuses well, reacts to sounds and most of all screams like a real baby. There is hope, and I wish everybody well for the new year.
        Sam

      3. eef1a2epilepsy Post author

        That’s great news Sam, I’m so pleased. The situation with the children with missense mutations and no deletions is probably different, but I know some children with the missense mutations also have food intolerances. Hope things continue to improve for your baby!

      4. Kari

        I added you so you should be able to access it. Let me know if you can’t. I tagged you though so it should show up.
        Kari

  14. Kari

    Cathy, Do you have any recent information about the number of kids diagnosed with a mutation in eEF1A2 now? Anything new going on with the research side of things that you want to share? Thanks. I am so grateful that you set up this website. It seems to be a good way to find new families.

    Reply
    1. eef1a2epilepsy Post author

      Hi Kari,

      You beat me to it, I was just thinking this morning that it would be good to collate all this information, and ideally have a table on this website about the different mutations. It’s still too early to know whether specific mutations will predict anything about the clinical picture in individual children but it would be well worth starting to look.

      There have been three more cases published in the last month, and 6 more on a poster at a big US epilepsy conference, plus the 6 (including some of you!) in the paper we have submitted. There are almost certainly people in the Facebook group who are in addition to this (it can be hard to tell as the publications are obviously anonymous, but two of the three recent published cases are in Japan). So at least 20 with the 4 already published.

      I’ll aim to post a proper update (not just in the comments) in the next week or so. If people would be willing to share the details of their children’s mutations then we could start to build a database that new parents could check. There are now at least 4 individuals each with G70S and the same with E122K, certainly, so patterns might emerge.

      I’ll update more with our work too!

      Cathy

      Reply
      1. Kari

        That sounds great! I’ll ask everyone to post their info on the fb group. Look forward to your update and to reading the paper when it’s published. Thanks!
        Kari

      2. eef1a2epilepsy Post author

        Fantastic, thanks Kari. If anyone wants to share details with other parents but would prefer that I didn’t use the information in any database then they can just say so, I’ll obviously honour those wishes!

  15. Kathy Marie White

    Hi my son was just diagnosed with eef1A2 with the help with his doctors at Kennedy krieger institute he 16 years old I thank God for his doctors for founding what is wrong with him with live in the united states he is the first case for the doctors here

    Reply
    1. eef1a2epilepsy Post author

      Welcome Kathy, I’m glad you found the site. If you are on Facebook and would like to join the group there I know you’d be very welcome. Your son is a but older than many on there so I’m sure the other parents would be keen to hear how you are all getting on.

      Reply
  16. Kari

    HI Kathy. If you are on Facebook please join our page. EEF1A2. My daughter is 11 and we live in Delaware. Glad you found us.

    Reply
      1. Kathy

        Yes it has been very difficult for my son and i .I think he has had it for years and we just found out ourself he is so much better now that the doctors have hom on the right medication.

  17. renee peek

    Can you have this gene issue and only have intractable epiiepsy without the intellectual disabilites and autism.My son just did the mouth swab no results yet.Hes verbal not dejayed just started seizures in Aug.I have surgery controlled TLE 29 yrx seizure free.I was intractable 3 yrs before surgery at 15.I havent been tested yet

    Reply
    1. eef1a2epilepsy Post author

      Hello Renee, I’m not a clinician so don’t take this as professional advice, but in all honesty we’re just scratching the surface of the effects that mutations in this gene can have. There are definitely people with autism and ID but not epilepsy so no reason to suppose that it’s impossible to have epilepsy without the other aspects. This is definitely true of other genes, too. Good luck with your results!

      Reply
  18. Uri

    Hello,
    Our 3 year old son has been diagnosed with a de novo heterozygous variant in the EEF1A2 gene, c.43C>G p.(His15Asp) after performing a whole exome sequencing. He has epilepsy, hypotony, developmental delay (he still does not walk or talk). He is on several medication to treat the seizures and we work tirelessly with the therapists to improve his motor and intellectual skills.
    Our son was born in the US (in Nevada, as we lived there for 4 years) but we are from Barcelona (Spain). We’re really glad to finally have a diagnosis but we’re desperate for more information, to get in touch with people in the same situation, news on treatments, etc.
    Thanks for putting this site up!

    Reply
    1. eef1a2epilepsy Post author

      Hello, thanks for getting in touch! Your son has yet another new mutation that we have not seen before. There is no news on treatments at the moment but there is a fantastic EEF1A2 support group on Facebook with lots of families in similar situations. I think Kari Haldeman will see your comment here and can add you to the group- I am also a member so if you want to ask any questions about research please feel free.
      Cathy

      Reply
  19. yaseminyolalyasemin

    hello I’m a speech and language pathologist. My client who 22 montl old baby boy has this gene mutation which uniqe one. I will researvh it academically and effects on communication. I could not found facebook page. Please share it to me and adding me in this group I will be pleasure being in contact and share knowledge each other. I’m live in Türkiye.
    Y.

    Reply
    1. Kari

      Hi. Please feel free go post or ask questions on the Facebook page. There is still very little known about the gene and mutations outside of seizures and low muscle tone.
      Kari

      Reply
  20. Annie Schepens

    Hello

    We are the parents of a thirty year old daughter who was diagnosed with EEF1A2 several years ago. Today we had some updates from our clinical geneticist and searching on the internet I found this forum. When our daughter was diagnosed in 2012 it was hard to find any information or parents who had a child with the same disorder.
    We live in the Netherlands and as far as I know in our country there are 3 diagnosed with this gene.
    I will be glad to give more information if anyone is looking for it. I also hope to find some more background information myself.
    Thanks
    Annie

    Reply
    1. eef1a2epilepsy Post author

      Hello, good to hear from you. I think your daughter was the start of this whole story! If you would like to join the Facebook group you would be very much welcomed, and meanwhile I am very happy to answer any questions. Cathy

      Reply
      1. Schepens- versteden A

        Thank you Cathy
        I have joined the face book group and introduced myself and my daughter. If I understand well that within the gene EEF1A2, there are mutations, so different disorders. Am I right?
        Are there known regressions in developments? Or in motoric? With My daughter it seems like her walking is getting slightly worse. It is always hard to tell what is due to epilepsy or medication.Her medication is changed in the past year.
        Annie

      2. eef1a2epilepsy Post author

        That’s great Annie- your daughter is beautiful! We still don’t know exactly how much difference the different mutations make, as there are so many that have only occurred once or twice. I would say probably all the same disorder but different severities, though that is only an informed guess. There is no evidence for regression but your daughter is one of the oldest people known with epilepsy caused by a mutation in EEF1A2. As you say, hard to know what is down to medication.

  21. Terri Twellman

    My granddaughter, now almost 1 year old, was recently diagnosed with EEF1A2. Apparently she has a brand new mutation. I have been searching for information in order to help my family learn more about this. Thank you so much for creating this place for information and support. I will be researching some of the websites you have posted. We live in the U.S.

    Reply
    1. eef1a2epilepsy Post author

      Hello Terri – you’re very welcome. I’m more than happy to try and answer any questions about the research and you and your family might like to join the Facebook group for support from other parents and grandparents? With best wishes, Cathy

      Reply
  22. Virginia Suazo

    Wow, this is a great resource, thank you so much for setting this up! I have my homework cut out for me as I just found out days ago that my 5yo daughter has a EEF1A2 mutation (variant p.D252H, coding c.754 G>C), not even sure what that means yet. If there are any other resources please post! Thanks again! PS- I already emailed you directly after seeing the FB group =)

    Reply
  23. Tracey

    My daughter, now 27, has recently been diagnosed with an eef1a2 gm. She is the most wonderful human being I have ever known! How many cases are now identified?

    Reply
    1. eef1a2epilepsy Post author

      How lovely to hear that! I can’t tell you how many in total because the numbers seem to be shooting up, but I would say at least 70. There will be loads more who just haven’t had genetic testing, though, or whose information hasn’t been described online anywhere. Your daughter is one of the older people we know of with a diagnosis. Do join the Facebook group if you haven’t already, there are lots of lovely supportive families there, but feel free to ask any questions about the science here, too! Cathy

      Reply
  24. Roxi

    Hello everyone!
    My niece was diagnosed with this eef1a2, she is 3years old and she lives is Romania, she had the diagnosis from Italy and she got some medication from there Subril and Desparchine.
    The chances for a corect medication are not high, I was wondering would UK be a chance for her? If there’s any medication or special treatment or something to help her out.
    Many thanks

    Reply
    1. eef1a2epilepsy Post author

      Hello, and thanks for your comment. I am not a clinician so can’t help with medication advice I’m afraid (although experiences seem to vary a lot between children and may depend on the exact mutation). There’s a Facebook group where other families may be able to share experiences that would help, by all means email me or Kari if you’d like to be added. Good luck, Cathy

      Reply

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s