Brain, Vol. 118, No. 1, 61-73, 1995
© 1995 Oxford University Press
research-article |
Autosomal dominant nocturnal frontal lobe epilepsy
A distinctive clinical disorder
1Departments of Neurology at Austin Hospital, Heidelberg and University of Melbourne Melbourne 2Departments of Neurology at Royal Children's Hospital Melbourne 3Departments of Neurology at Women's and Children's Hospital Adelaide 4Departments of Neurology at Princess Margaret Hospital for Children Perth, Australia 5Departments of Neurology at University Department of Clinical Neurology, Institute of Neurology London, UK 6Departments of Neurology at Montreal Neurological Hospital and Institute Montreal 7Departments of Neurology at Laval University, Quebec City Ottawa, Canada 8Departments of Neurology at Children's Hospital of Eastern Ontario Ottawa, Canada
Correspondence to:
Dr Ingrid E. Scheffer, Department of Neurology, Austin Hospital, Heidelberg, Melbourne, Victoria 3084, Australia
The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group of five families from Australia, Britain and Canada, containing 47 affected individuals, was studied. The largest family contained 25 affected individuals spanning six generations. This disorder is characterized by clusters of brief nocturnal motor seizures, with hyperkinetic or tonic manifestations. Subjects often experienced an aura, and remained aware throughout the attacks. Seizures occurred in clusters (mean eight attacks/night) typically as the individual dozed, or shortly before awakening. The epilepsy usually began in childhood, and persisted through adult life, with considerable intra-family variation in severity. Seizures were often misdiagnosed as benign nocturnal parasomnias, psychiatric and medical disorders. Interictal EEG studies were unhelpful. Ictal video EEG studies showed that the attacks were partial seizures with frontal lobe seizure semiology. Neuro-imaging was normal. Carbamazepine monotherapy was frequently effective. This disorder showed autosomal dominant inheritance. Recognition of this entity is clinically important for diagnosis, appropriate therapy and genetic counselling. Moreover, this disorder now offers an opportunity to identify a gene for partial epilepsy.
epilepsy; partial seizures; genetics
Received August 22, 1994. Accepted October 10, 1994.
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