Autosomal dominant nocturnal frontal epilepsy
Autosomal dominant nocturnal frontal epilepsy (ADNLE) is a family idiopathic focal epilepsy characterized by cluster seizures emanating from the frontal lobe of the cerebral cortex during slow sleep. There are three subtypes of motor attacks in ADNLE: 1) paroxysmal arousal - a sharp recurrent arousal associated with a stereotypical (hypermotor) motor pattern; 2) paroxysmal dystonia - recurring motor attacks with dystonic / dyskinetic movements lasting less than two minutes; 3) episodic wandering - somnambulistic behavior that occurs in the phase of slow sleep. The cause of the disease are mutations in genes such as: DEPDC5, CHRNA4, CHRNB2, CHRNA2, KCNT1 and CRH. Video polysomnography is the most informative method in diagnosis, however, in 1/4 of patients pathological activity is not detected either during interictal or ictal recording. Carbamazepine and oxcarbazepine are the treatment of choice. About 30% of patients remain pharmacoresistant.