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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: | https://ahro.austin.org.au/austinjspui/handle/1/13162 | Journal: | Lancet | 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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