How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ?
How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist.