Variant in as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo Mutation.

Mutations in genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier alleles at one or more loci that contribute to determine the severity of the epilepsy phenotype. One example of modifier factor may be the gene, as proved in animal models.