M. Capponi

The role of early genetic diagnosis in drug-resistant epilepsies: analysis of SCN1A, SCN2A and SCN8A gene mutations through salivary genetic testing

Epileptic and/or developmental encephalopathies (DEEs) represent a particularly severe subgroup of early-onset epilepsies, with an identifiable genetic aetiology in 30–50% of cases. Mutations in the SCN1A , SCN2A , and SCN8A genes, encoding the α-subunits of the voltage-gated sodium channels Nav1.1, Nav1....