New data have shown how identifying the presence of variants in epilepsy-related genes can significantly influence treatment choices in pediatric patients with epilepsy.
Researchers at the Children’s Medical Center in Dallas, Texas, USA, reviewed the results of next-generation sequencing (NGS), including SCN1A and SCN8A, in pediatric patients with epilepsy. Variants in SCN1A and SCN8A were classified as variants of unknown significance (VUS), likely pathogenic (LP), or pathogenic (P).
The main findings of the study were as follows: