A member asked:

How can you have a scn1a mutation and not have epilepsy or siezures? is this possible? the person is 27 and it was found with whole exome.

A doctor has provided 1 answer
Dr. Richard Roberts answered

Specializes in Pediatrics

Yes: this is the problem of offering whole exome testing to the public without genetic counseling. The test examines known genes and determines whether a variant from the norm is present. If present in a gene which can cause disease, the following question must be answered: is it disease-producing, a benign variant, or do we know enough about it to say?Call the testing lab for an answer

Answered 11/11/2015

2.1k views

Thank

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