A 10-month-old infant presents with a prolonged focal febrile seizure lasting 25 minutes. He previously had a generalized tonic-clonic seizure at 5 months during a viral illness. Development is starting to plateau. Which genetic mutation is most commonly associated with this condition?
- A SCN1A ✓
- B TSC1
- C MECP2
- D CDKL5
Correct answer: A. SCN1A
Explanation
Dravet syndrome is a severe epileptic encephalopathy typically triggered by fever, beginning in infancy with prolonged focal or generalized febrile seizures. It is classically associated with a loss-of-function mutation in the SCN1A gene encoding a voltage-gated sodium channel subunit. TSC1 is associated with tuberous sclerosis complex, MECP2 with Rett syndrome, and CDKL5 with early infantile epileptic encephalopathy.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.