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mutation on the SCN3A gene
Mon, 05/28/2018 - 12:04hello,
My daughter (5 months old) has a mutation on the SCN3A gene. this mutation cause her to suffer from epilepsy and we haven't found yet the best treatment plan for her. to the best of my knowledgeת 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.
Does anyone else here have that mutation as well or know someone who have it?
Comments
SCN1a mutations can be
Submitted by epihelp on Thu, 2018-05-31 - 20:13
SCN1a mutations can be associated with different types of epilepsy. Some seizure medicines can make this worse so it is important to know more about it. Visit the Rare Epilepsy Network for more info. https://ren.rti.org/The Epilepsy Genetics Initiative may be good to look into as well.
Which medicines make seizures
Submitted by SCN3A on Sun, 2019-03-10 - 13:29
Which medicines make seizures worse with SCN3A gene mutation
have you talked to the people
Submitted by Amy Jo on Tue, 2018-05-29 - 00:40
have you talked to the people who wrote this article? Summary says phenytoin and lacosimide might be good options (assuming I read that right) https://www.ncbi.nlm.nih.gov/m/pubmed/29466837/There’s a blog entry from this year on SCN3A/Nav1.3 on epilepsygenetics.net that mentioned that paper.