Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/13162
Title: Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.
Austin Authors: Scheffer, Ingrid E ;Bhatia, K P;Lopes-Cendes, I;Fish, D R;Marsden, C D;Andermann, Frederick;Andermann, Eva;Desbiens, R;Cendes, F;Manson, J I
Affiliation: Department of Neurology, Austin Hospital, Heidelberg (Melbourne), Australia
Issue Date: 26-Feb-1994
Publication information: Lancet (london, England); 343(8896): 515-7
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.
Gov't Doc #: 7906762
URI: http://ahro.austin.org.au/austinjspui/handle/1/13162
URL: https://pubmed.ncbi.nlm.nih.gov/7906762
Type: Journal Article
Subjects: Adolescent
Carbamazepine.therapeutic use
Diagnosis, Differential
Diagnostic Errors
Epilepsy, Frontal Lobe.diagnosis.drug therapy.genetics.physiopathology
Female
Genes, Dominant
Genetic Diseases, Inborn.diagnosis.drug therapy.genetics.physiopathology
Humans
Male
Pedigree
Polysomnography
Sleep Disorders.diagnosis
Syndrome
Appears in Collections:Journal articles

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