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!!!
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.
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!
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!!!!
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
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.