This website provides information on patients with variants in the SCN1A gene, including clinical data, molecular data, management and research options.

Pathogenic variants in SCN1A (which encodes the Nav1.1 voltage-gated sodium channel -subunit) cause several distinct disorders along an overlapping spectrum. The principal SCN1A-causative conditions are:
•    Genetic Epilepsy with Febrile Seizures Plus (GEFS+): a familial epilepsy syndrome in which febrile seizures begin in infancy/early childhood and may persist beyond age 6, often accompanied by afebrile seizures.
•    Dravet Syndrome (DS): an early-infancy, treatment-refractory developmental and epileptic encephalopathy with subsequent developmental slowing and regression
•    Familial Hemiplegic Migraine Type 3 (FHM3): a migraine subtype with episodic aura and reversible hemiparesis; seizures occur in some families
•    Developmental and Epileptic Encephalopathy 6B (DEE6B): a very-early-onset (<3 months) severe developmental and epileptic encephalopathy with refractory seizures, profound developmental impairment, and a hyperkinetic movement disorder.

Not all individuals with an SCN1A variant exhibit all features listed above; severity and expressivity can vary within patient populations and across families.  

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with variants in the SCN1A gene.

Veronica Hood, PhD, Dravet Syndrome Foundation, Cherry Hill, NJ, USA, veronica@dravetfoundation.org

Vikram Bagchi, MD, PhD Student, University of Michigan Medical School, Ann Arbor, Michigan, USA, vabagchi@med.umich.edu