Background Variants in SCN1A gene, encoding the voltage-gated sodium channel Nav1.1, are associated with distinct epilepsy syndromes ranging from relatively benign genetic febrile seizures plus (GEFS+) to Dravet syndrome, a severe developmental and epileptic encephalopathy (DEE). Most pathogenic variants heterozygous changes inherited dominant or de novo inheritance many cause loss-of-function ...

The voltage-gated sodium channel (SCN) alpha subunits are large proteins with central roles in the generation of action potentials. They consist of approximately 2,000 amino acids encoded by 24-27 exons. Previous evolutionary studies have been unable to reconcile the proposed gene duplication schemes with the species distribution and molecular phylogeny of the genes. We have carefully annotated...

Commentary Dravet syndrome, formerly known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a devastating neurodevelopmental disorder of intractable epilepsy that begins in early infancy. Tragically, development of affected children is typically on track during the first year of life, whereas progressive developmental decline and prolonged seizures begin to emerge in the second year of life. ...