Conditions / Nervous system
juvenile absence epilepsy 1
info · Nervous system
A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.
Signs and symptoms
- EEG with spike-wave complexes (>3.5 Hz)
- Bilateral tonic-clonic seizure on awakening
- Generalized non-motor (absence) seizure
- Generalized myoclonic seizure
Also known as: EJA1; JAE1