This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
SCN1A-related seizure disorders is a group of diseases that includes simple febrile seizures, generalized epilepsy with febrile seizures plus, Dravet syndrome, migrating partial seizures of infancy, and intractable childhood epilepsy with generalized tonic-clonic seizures, as well as some cases of Lennox-Gastaut syndrome, West syndrome (infantile spasms) and vaccine-related encephalopathy and seizures. Signs and symptoms can vary, even among members of the same family, and may include seizures related to fever, focal convulsions (convulsions that start in one area of the brain) or generalized convulsions that can not be controlled by medication. The diseases are caused by mutations in the SCN1A gene. Inheritance is autosomal dominant, but most cases happen in those without a family history (de novo). Treatment includes the use of antiepileptic medication and ketogenic diet.
For more information, visit GARD.