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Deb_g4  
#1 Posted : Friday, January 12, 2018 9:18:55 AM(UTC)
Deb_g4


Rank: Newbie

Groups: Registered, SCN8A Patient/Caregiver
Joined: 12/18/2016(UTC)
Posts: 5
Woman
United States
Location: California

Thanks: 3 times
Was thanked: 5 time(s) in 2 post(s)
Hello,
I feel silly asking this, because it seems as if I should know! But, still learning about SCN8A and we’re fairly new to this.
I’ve been reading a lot about various cases of people with the SCN8A mutation. I hear a lot about gain of or loss of function. How do I find out if my son’s mutation is gain or loss of function?
-Deb
thanks 2 users thanked Deb_g4 for this useful post.
ngocanhkiu on 8/23/2018(UTC), Sandra on 8/29/2018(UTC)
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The information provided in this forum is for informational purposes only. The purpose of these topics is to promote a broad understanding and knowledge of SCN8A in an effort to support parents and guardians in the care of patients with this rare genetic disorder. It is not intended to be a substitute for published data, clinical practice guidelines, professional medical expertise, diagnosis, or treatment. The information may be useful when corresponding published data are not available. Always seek the guidance of physicians with any questions you may have regarding treatment and before beginning a new health care regimen. Never disregard professional medical advice or change treatment course solely because of something you have read within this forum. The user assumes all responsibility and risk for the use of the information provided in this forum. Under no circumstances shall The SCN8A Community Website, the University of Arizona, its volunteers, sponsors, or any contributors to this forum be liable for any DIRECT, INDIRECT, INCIDENTAL, or CONSEQUENTIAL damages that result from the use of the forum.