Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

We describe a distinctive epilepsy syndrome in six families, which is the first partial epilepsy syndrome to follow single gene inheritance. The predominant seizure pattern had frontal lobe seizure semiology with clusters of brief motor attacks occurring in sleep. Onset was usually in childhood, oft...

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Bibliographic Details
Published in:The Lancet (British edition) 1994-02, Vol.343 (8896), p.515-517
Main Authors: Scheffer, I.E., Berkovic, S.F., Bhatia, K.P., Fish, D.R., Marsden, C.D., Lopes-Cendes, I., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J.I.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Carbamazepine - therapeutic use
Diagnosis, Differential
Diagnostic Errors
Epilepsy
Epilepsy, Frontal Lobe - diagnosis
Epilepsy, Frontal Lobe - drug therapy
Epilepsy, Frontal Lobe - genetics
Epilepsy, Frontal Lobe - physiopathology
Families & family life
Female
Genes, Dominant
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - drug therapy
Genetic Diseases, Inborn - genetics
Genetic Diseases, Inborn - physiopathology
Genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Male
Medical research
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Pedigree
Polysomnography
Sleep Wake Disorders - diagnosis
Syndrome
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Description
Summary:We describe a distinctive epilepsy syndrome in six families, which is the first partial epilepsy syndrome to follow single gene inheritance. The predominant seizure pattern had frontal lobe seizure semiology with clusters of brief motor attacks occurring in sleep. Onset was usually in childhood, often persisting through adult life. Misdiagnosis as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia was common, and the inheritance pattern was often not appreciated. This autosomal dominant epilepsy syndrome is ideal for identification of partial epilepsy genes.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(94)91463-X