Epilepsy Foundation

EFMR - New genetic testing for Epilepsy restricted in Females with Mental Retardation

Hello e-community...I'm posting this a 2nd time in hopes that someone out there might also have a daughter diagnosed with EFMR. My 5 1/2 year old daughter just underwent genetic testing in Boston and tested positive for a mutation of PCDH19. This PCDH19 gene was only discovered in 2008, and evidently this is the first definitive test available for EFMR. Even though the EMFR diagnosis has been around for 10+ years. It also poses a perplexing scenario for genetists because it's inherited through the X chromosome, and only effects girls. The Y chromosome in Men seems to protect against the mutation manifestations, which is the oppositve from what is usually seen in this type of inherited mutation. Very little is out there on EFMR, and they think that it is very under diagnosed. My husband and I have scoured the internet to no avail - does anyone out there know anything about it? The symptoms of EMFR are hard to controll seizure onset in girls in early childhood or infancy, developmental delays and often significant cognitive impairment and often have autistic features. Our daughter has reletively well controlled seizures, tonic clonic w/clusters every 4 weeks to 10 months. She's on a lot of meds. She is verbal and talks a lot, but doesn't say very complicated things. She is also physically active, although pretty clumsy and very easily distracted. Thanks for listening and hope to connect with anyone else also looking for answers.

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I would be happy to post it on another site. I am not sure what site you are referring to. You are welcome to post the link. Let me know.

Cozzie said:
Lulusmom said:
Hi all,

Received this interesting online presentation from our geneticist. It discussed EFMR and PCDH19 and relates it to Dravet Syndrome. It is long, but very informative. http://www.brainshark.com/athena/EFMR

Hiya Lulusmom - That was ABSOLUTELY BRILLIANT!!!! I have a friend who is looking for a dx for her dd - we have spoken often on the phone. I wonder whether this may hold some answers for her. She is exploring a possible Dravet dx & has just gotten an appt with Pr Scheffer for Sept this year. HOW BRILLIANT that she is the one presenting this - I have everything crossed that they will find some answers.

Would you please consider posting this on the Aussie E site for me? I think it is a fantastic piece others should be aware of. THANK-YOU!!!
Lulusmom said:
I would be happy to post it on another site. I am not sure what site you are referring to. You are welcome to post the link. Let me know.


Hiya - it is TalkEpilepsy :) I will pop over & post it :) The parent I sent it to before was really interested - so thank-you for making a difference! I soooo want her to find some answers for her beautiful girl. Maybe this is one.
Keep your chin up - you are awesome!
Keep me posted. I just truly believe there are a lot more girls with this condition out there than are being diagnosed. I want to raise awareness. I don't want any other girls and families to continue suffering without answers and support.

Cozzie said:
Lulusmom said:
I would be happy to post it on another site. I am not sure what site you are referring to. You are welcome to post the link. Let me know.


Hiya - it is TalkEpilepsy :) I will pop over & post it :) The parent I sent it to before was really interested - so thank-you for making a difference! I soooo want her to find some answers for her beautiful girl. Maybe this is one.
Keep your chin up - you are awesome!
Absolutely agree, Lulusmom:)
Hugs
Buonasera sono la mamma di una bimba di anni 8 affetta da mutazione PCDH19 e ritardo mentale e tratti autistici.
Volevo conoscere altre famiglie con questa mutazione .
per favore rispondetemi!!!!
Oriana

Italia Roma
My absolute pleasure:) Thank-you for your work in bringing Oriana here. Wishing her & her family well! :))
I would be happy to talk with you. However, I fear that our language barrier will be an obstacle in discussing our girls. If you know anyone who can translate English, please let me know and I can email you information.

o.riana said:
Buonasera sono la mamma di una bimba di anni 8 affetta da mutazione PCDH19 e ritardo mentale e tratti autistici.
Volevo conoscere altre famiglie con questa mutazione .
per favore rispondetemi!!!!
Oriana

Italia Roma
Thank you, Harriet!

harriett said:
This piqued my interest... some links for anyone wanting to do some more reading about this. :)

Researchers discover link between PCDH19 gene and EFMR epilepsy in ... That article has some good information in it, and makes the point that this gene may also be involved in other forms of epilepsy.

ncbi site; Detailed case histories & genetics involved

Another interesting abstract
Hi Elizabeth my daughter has EFMR and she is 9 years old and by what u have wrote about your daughter she sounds like my we gril her EFMR is gentic in her father side her half sister and her aunt great aunts and grandmother has it also if u would like to ask me a question am here. My daughter started taking her sezuires 2 weeks after her frist birthday she had 30 seziures in 2 days then she was sent to ICU for 2 days until they got her sezuires under control she has servre learning problems autisic tendendices speech impairment and is very active and she repeats herself alot as well.
I was told by my daughter gentices doctor that its congential and from the moment she was concived she would have sezuires because of her gentic make up. Looking back on her frist year of life their was signs which I new from her aunt that she was doing wasnt normal but my mum sayed to me babies stare into space but Ithinkshe was trying to make me feel better because of the family history. To be honest I think EFMR Sydrome has been here longer than 10 years as my daughter grandmother and sister have it and they r in 40 and 30.

Elizabeth Sucher said:
Actually, you're on the money w/the close relationship w/Dravet Syndrome. Our Neuro definitely agrees that this PCDH19 gene mutation is more closely related to Dravet syndrome than not. Similar types of symptoms and presentation. Hope to learn more over the next year and that 2010 will bring some more info and answers.



Cozzie said:
I had a look through the articles posted by Harriet. Thanks for that:)
I wonder, is there any particular pattern of seizure types which occur in this condition? ie is it usually GTCs or myoclonics or is it highly variable?
Our dd has Dravet syndrome (with SCN1A mutation) & it is interesting that similar things happen with this syndrome - though it is not the same, of course - it's just interesting to me. Interestingly, a good portion of kids with Dravet have their first seizure just after the 2 or 4mth immunisation. That happened with our dd, too. At the time (pre-dx) we had thought it was an immunisation reaction - but it turns out it was the slight fever which triggered the seizure, not the needle. I wonder if this is the case for your kiddies, too?
I see that Ingrid Scheffer & Samuel Berkovic from Australia have been part of the research on EFMR- as they have been in Dravet syndrome, also.
There is pretty much a clinical pattern to Dravet's - I just wondered if there seemed to be one for EFMR?
Thank-you so much for bringing this condition to light - I too, had never heard of it before.
hi everyone1! my name is helen and i live in Australia. i have a 21month old girl. she has just come bk poss 4 EFMR. really cant fin d much info but would love to connect to any1 who has similar story.

they first throught it was dravet syndrom as she follows there patterns but she was neg so they tested her for this.
here is our story 4 any1 intrested.
Bella started having seizures just after her 4month immunisations. then again after her 6month ones. first time we were told convultions second time was worse an she seized on and off all day and night 4 2weeks. we were told infentile spasums. and that she could no longer be immunised. and bassically it happend every4 weeks pretty much to the day from then on. none of her meds ever worked. she is always loaded but nothing helps at the hospital. and she is always put straight on to a midaz infusion. they are always clusters and so far each one between 2mins all the way up to 15mins. they are both day and night. she has ALL seizure types but her main 1s or tonic clonic-generalised. the minimum she will have in a day is around 20 and often 100+ aday. they can last any where from 3or4days 2 3or4weeks at a time. we were resently put on stiripentol, clobizam an epilim. (same as dravet kids) because she was having 3weeks worth of seizures between 50 n 100 aday (so pretty much continus) and then would only have between 3days to a week before she would start another cluster. we were told that we were very lucky to have left the hospital at all over the last 4months. within 4days of the stiripentol all her absance seizures an head flops that she would have at home in between big clusters had stopped. she also started sleeping threw the night. (she had major sleep probs b4 and we had to sedate her reagularly at night at home just so she could rest her brain!) there are also development delays. if some out there could please help or share there story it would help us out greatly. thanx 4your time. helen.
Hi Helen,
We're in Australia, too. Our dd has Dravet's. She has just turned 5yrs old.
Just wondering, have you been able to access the forum for the Idealeague?
Where abouts in Australia are you based? We are in south-east Qld.

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