AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - DEMONSTRATION OFFOCAL FRONTAL ONSET AND INTRAFAMILIAL VARIATION

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a newly recognized autosomal dominant partial epilepsy. We studied seizure lo calization and intrafamilial variation using video-EEG monitoring (VEM ) and functional neuroimaging in two pairs of subjects from unrelated families. The clinical features of seizures were similar from seizure to seizure in each individual, but varied between individuals. As is o ften found in frontal lobe epilepsies, ictal EEG localization was impr ecise in three of four cases. One patient showed a consistent left fro nto-polar onset that was corroborated by congruent focal hypometabolis m on interictal PET and focal hyperperfusion on ictal single photon em ission computed tomography (SPECT). A second case studied with ictal S PECT showed a right parasagittal, midfrontal focus. We conclude that t his autosomal dominant epilepsy syndrome, which in one of the two fami lies was due to a known neuronal nicotinic acetylcholine receptor muta tion, causes frontal lobe foci that are unilateral and in variable loc ations in different individuals.