EPS15L1
Epilepsy Syndrome with Myoclonic Seizures in Infancy (SMEI)
Description:
SMEI, or Dravet Syndrome, is a rare and severe epileptic syndrome characterized by:
- Myoclonic seizures (brief, involuntary muscle jerks) starting before 1 year of age
- Tonic-clonic (grand mal) seizures
- Developmental delay, including intellectual disability and impaired speech
- Autism spectrum disorder
- Photosensitivity (sensitivity to flashing lights)
Associated Diseases:
SMEI is caused by mutations in the SCN1A gene, which encodes a sodium channel protein crucial for normal brain function. Mutations in this gene disrupt the balance of brain electrical activity, leading to seizures.
Did you Know ?
Approximately 1 in 20,000 children are diagnosed with SMEI.
