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Snap 25

Posted by lizdell on 11 May 2013 at 04:07 GMT

Hi,
My daughter was found to have a snap 25 de novo mutation which is c.142G>T (p.V48F) by Ambry Labs through whole exome testing. She has epilepsy and other issues. She is so far the only known human to have a mutation in her snap 25 gene. We would like to control her epilepsy and it is not controlled. Please forgive this post if this site is just for researchers but we would be overjoyed to correspond with anyone who might be able to help.

No competing interests declared.