151. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.
- Author
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Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, and Manson JI
- Subjects
- Adolescent, Carbamazepine therapeutic use, Diagnosis, Differential, Diagnostic Errors, Epilepsy, Frontal Lobe drug therapy, Epilepsy, Frontal Lobe physiopathology, Female, Genetic Diseases, Inborn drug therapy, Genetic Diseases, Inborn physiopathology, Humans, Male, Pedigree, Polysomnography, Syndrome, Epilepsy, Frontal Lobe diagnosis, Epilepsy, Frontal Lobe genetics, Genes, Dominant, Genetic Diseases, Inborn diagnosis, Genetic Diseases, Inborn genetics, Sleep Wake Disorders diagnosis
- Abstract
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.
- Published
- 1994
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