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Treatment for SCN3A mutation

Mon, 04/06/2015 - 16:07

I am a 24 year old and I had my first seizure about two years ago. We haven't found the best treatment plan yet, but I dont know how much longer I can take. Everytime I we readjust my medication I'm nervous about having another seizure in the middle of work or while I'm driving. I finally got a blood test done and my doctor told me I have a mutation on the SCN3A gene. Does anyone else here have that mutation as well? 

My friend told me there is a lab in Cambridge, MA called Intellimedix that will create a zebrafish with the exact same mutation and test drugs on it, has anyone heard of this? Does anyone know if they are actually providing this service, or if it's still in prototyping?

 

Comments

I finally got a blood test

Submitted by just_joe on Tue, 2015-04-07 - 14:25
I finally got a blood test done and my doctor told me I have a mutation on the SCN3A gene.  Was this doctor your neurologist??? If not then you do need to contact your neurologist and give him this information.   Evidently there is study going on with the gene and polymorphismsscn3a gene and epilepsy   <<<< put that into your search engine once things start to come up go down to where med www.med.upenn.edu/.../mulleyetal2005SCNA1mutationsandepilepsy-1.pdf <<<< is the site you can get pdf fromI hope this helpsJoe

My daughter also has a

Submitted by kan2011 on Mon, 2018-05-28 - 11:57
My daughter also has a mutation on the SCN3A gene. we also haven't found yet the best treatment plan for her. i understood this is a very rare mutation, so i am trying to get in the touch with everyone who suffer from this mutation and to learn from his experience.is there a way to speak with you directly? 

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