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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adolescent
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Carbamazepine / therapeutic use
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Diagnosis, Differential
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Diagnostic Errors
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Epilepsy, Frontal Lobe / diagnosis*
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Epilepsy, Frontal Lobe / drug therapy
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Epilepsy, Frontal Lobe / genetics*
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Epilepsy, Frontal Lobe / physiopathology
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Female
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Genes, Dominant*
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Genetic Diseases, Inborn / diagnosis*
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Genetic Diseases, Inborn / drug therapy
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Genetic Diseases, Inborn / genetics*
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Genetic Diseases, Inborn / physiopathology
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Humans
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Male
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Pedigree
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Polysomnography
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Sleep Wake Disorders / diagnosis*
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Syndrome