PhenomeGene — Human Disease Gene Website SeriesSCN1A

Clinical Characteristics

Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
•    Seizures with fever begin in early childhood and may continue beyond age 6. Some patients later have seizures without fever. Most respond well to medicine and improve with age. Learning and development are usually normal. A few children have long seizures that may need emergency care.

Dravet Syndrome (DS)
•    Seizures begin in the first year of life (with and without fever) and are often long. Over time, different seizure types appear. Triggers include fever, overheating, and flashing lights. Children often slow down in development, may have behavior and sleep problems, and develop balance/walking difficulties. Seizures rarely go away completely and the risk of SUDEP is higher than usual.

Familial Hemiplegic Migraine, Type 3 (FHM3)
•    Migraine attacks include aura (visual or sensory symptoms, difficulty speaking) plus temporary weakness on one side. Attacks can be frightening and can look like a stroke, so urgent evaluation is sometimes needed. People are usually normal between attacks, some families also have seizures.

Developmental and Epileptic Encephalopathy 6B (DEE6B)
•    Seizures begin very early (often in the first two months). They are hard to control and may include spasms or stiffening. Children have severe developmental challenges and may have extra movements, feeding problems, and breathing issues. The condition is usually more severe than Dravet syndrome (DS).