The clinical, electrophysiologic, and genetic characteristics of autosomal dominant partial epilepsy were studied in 71 patients and 33 non-epileptic at-risk family members in 19 European families followed at the Hopital Universitaire de Geneve, Switzerland, and centers in Strasbourg, Paris, Grenoble, Nice, Marseille, Rome, and Pisa. Families were subdivided into those with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (n = 8), familial temporal lobe epilepsy (7), and autosomal dominant partial epilepsy (4).

Familial partial epilepsies show great intrafamilial variability, and up to 30% may be resistant to antiepileptic medication. Some affected family members may have only EEG abnormalities, without clinical seizures, reflecting incomplete penetrance. Genetic studies found no mutation in the a4 and B2 nicotinic acethylcholine receptor subunits, but positive lod scores were obtained in 4 families with markers from the candidate region on chromosome 10q. [1]

COMMENT. Familial partial epilepsies may originate in frontal, temporal, and other variable locations. Clinical and surface EEG findings may provide conflicting localizing evidence, and an overlap of partial epilepsy syndromes within families may occur, with genetic heterogeneity.

Frontal lobe origin of absence seizures is discussed by Pavone A and Niedermeyer E [2]. The distinction between partial and absence seizures of frontal lobe origin is important from a therapeutic standpoint. Carbamazepine is the agent of choice for partial, and valproate for absence seizures.