Conditions / Genetic
early-onset epilepsy 2
info · Genetic
An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Hydrocele testis
- Global developmental delay
- Delayed CNS myelination
- Patent foramen ovale
Also known as: EPEO2; early-onset epilepsy-2 with or without developmental delay