Genetic etiologies and diverse phenotypes in epilepsy of infancy with migrating focal seizures

Takeaway

  • Identification of a multitude of genes associated with migrating focal seizures (EIMFS) suggests a heterogenous etiology and diverse disease mechanisms.

Why this matters ?

    As an increasing number of pathogenic variants emerge in EIMFS, better understanding of the link between genotype and phenotype could help to inform prognosis and appropriate therapies for this distressing syndrome.