title: Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.
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.
authors.affiliation: Department of Neurology, Austin Hospital, Heidelberg (Melbourne), Australia.
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: I
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: D R
authors.initials: DR
authors.lastname: Fish
authors.forename: C D
authors.initials: CD
authors.lastname: Marsden
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: R
authors.initials: R
authors.lastname: Desbiens
authors.forename: F
authors.initials: F
authors.lastname: Cendes
authors.forename: J I
authors.initials: JI
authors.lastname: Manson
mesh_terms: D000293:Adolescent; D002220:Carbamazepine / Q000627:therapeutic use; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D017286:Polysomnography; D012893:Sleep Wake Disorders / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D002220:Carbamazepine