PhenomeGene — Human Disease Gene Website SeriesSCN1A

Families

Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
•    What it is: a family pattern of seizures where fever-related seizures happen in young children and may continue past age 6; some people also have seizures without fever. Many patients have normal learning and development.
•    How common and inherited: often inherited (50% chance for each child), but not everyone who inherits the change will have seizures. We don’t know exactly how common GEFS+ is.

Dravet Syndrome (DS)
•    What it is: seizures start in the first year of life and are often very long. Over time, many seizure types appear and can be hard to control with antiseizure medications. Development, behavior, sleep, and walking are often affected; the risk of sudden unexpected death in epilepsy (SUDEP) is higher than in most epilepsies.
•    How common and inherited: about 1 in 15,000 – 40,000 births. Usually caused by a change in the gene SCN1A in utero (not inherited), though sometimes it runs in families.  

Familial Hemiplegic Migraine, Type 3 (FHM3)
•    What it is: migraine with aura where the aura can include temporary one-sided weakness. Attacks may be triggered by small head bumps; some families also have seizures.
•    How common and inherited: very rare overall (~0.01% of people). Inheritance is autosomal dominant (each child has a 50% chance to inherit this change).  

Developmental and Epileptic Encephalopathy 6B (DEE6B)
•    What it is: a very severe condition with seizures that begin before 3 months, major developmental delays, and movement disorder (twisting/writhing)
•    How common and inherited: very rare and usually caused by a change in the SCN1A gene in utero (not inherited)