We describe a Norwegian family with clusters of brief nocturnal motor @entity410 with @entity71 or tonic manifestations. @entity410 started in childhood. Neurological examination and neuroimaging were normal. Interictal EEG registrations were mostly normal, ictal EEG registrations disclosed @entity302 in two of three @entity1 examined and just shallow arousal preceding the attack in one of the three @entity1 . Segregation analysis indicated an autosomal dominant inheritance pattern, and the @entity1 were subsequently diagnosed as having @entity4940 , @entity74 first described in 1995. A missense mutation in the gene for the alpha-4 subunit of the neuronal nicotinergic @entity934 receptor was recently described in an Australian family with this disorder. Our Norwegian family proved to have a novel insertion mutation ( @entity44899 ) in the same gene. This mutation affects the second transmembrane domain (M2) which forms the critical section of the ion channel. This is the first case of idiopathic @entity302 where the underlying molecular defect has been found. The fact that a dysfunction of the nicotinergic @entity934 receptor may give rise to frontal @entity302 was surprising and may shed new light on the basic mechanisms of epileptogenesis. Manipulations of the cholinergic system may open up a new therapeutic approach.

[ XXXX . An electroclinical and genetic description of a Norwegian family with ten affected members].

@entity1 :: ('9606', 'Species') :: ['patients'] @entity410 :: ('MESH:D012640', 'Disease') :: ['Seizures', 'seizures'] @entity44899 :: ('|INS|776|3', 'DNAMutation') :: ['776ins3'] @entity71 :: ('MESH:D001289', 'Disease') :: ['hyperkinetic'] @entity302 :: ('MESH:D004827', 'Disease') :: ['left frontal epileptiform discharges', 'epileptic seizures', 'partial epilepsy'] @entity4940 :: ('MESH:D017034', 'Disease') :: ['autosomal dominant nocturnal frontal lobe epilepsy'] @entity74 :: ('MESH:D030342', 'Disease') :: ['a disorder'] @entity934 :: ('MESH:D000109', 'Chemical') :: ['acetylcholine']
@entity4940 :: (MESH:D017034,Disease) :: ['Autosomal dominant nocturnal frontal lobe epilepsy']
