![]() Nicotine transdermal patches may be efficient in patients who are refractory to standard antiepileptic drugs. Oxcarbamazepine, topiramate and acetazolamide (as add-on therapies) may also be used. Carbamazepine abolishes seizures in 20% of cases, and gives significant relief (at least 50 % seizure reduction) in another 48%. The treatment of choice for ADNFLE includes use of carbamazepine (200-1,000 mg/day). ![]() High intra-familial heterogeneity has been described. Transmission is autosomal dominant with a penetrance ranging from 60 % to 80 %. Differential diagnosisÄifferential diagnoses include paroxysmal dyskinesia, familial focal epilepsy with variable foci, restless legs syndrome, periodic limb movement disorders (PLMS), REM sleep behavior disorders (RBD), nocturnal panic attacks, non-REM parasomnias, obstructive sleep apnea syndrome, and arousal disorders. Diagnosis is also achieved by recording seizures by nocturnal video polysomnography (V-PSG) and confirmed by genetic screening. Diagnostic methodsÄiagnosis relies principally on clinical history revealing at least one of the following four criteria: motor event duration of less than 2 minutes unstructured vocalization during the episode experience of an aura preceding the motor attack history of tonic-clonic seizures during sleep. EtiologyĪDNFLE results from malfunction in the thalamo-cortical loops. Paroxysmal hypnogenic dyskinesia (PHD), which was previously characterized as a form of paroxysmal dyskinesia, is now considered to be ADNFLE. Intellect is usually preserved or mildly reduced and psychiatric comorbidity may occur. Daytime dyskinesia, generalized seizures and auras may occur. The frequency is highly variable ranging from 5 attacks per night to 5 times per year. Some patients may show ictal deambulatory behaviors often associated with frightened expression. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is defined by different motor events of increasing complexity and duration, arising during non-rapid eye movement sleep (NREM), including short-lasting (2-4 sec) stereotyped movements involving the limbs, axial musculature, and/or the head paroxysmal arousals characterized by sudden and brief arousals (5-10 sec) sometimes accompanied by stereotyped movements, vocalization, and fear and major attacks (20-30 sec), featuring asymmetric tonic or dystonic posturing, or complex movements (pelvic thrusting, pedaling, choreoathetoid, and ballistic movements of the limbs). The age of onset varies between 3 and 47 years (usually < 20 years, with a peak during childhood). Over 100 families have been described in the literature to date.
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