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https://ahro.austin.org.au/austinjspui/handle/1/13162
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Scheffer, Ingrid E | en |
dc.contributor.author | Bhatia, K P | en |
dc.contributor.author | Lopes-Cendes, I | en |
dc.contributor.author | Fish, D R | en |
dc.contributor.author | Marsden, C D | en |
dc.contributor.author | Andermann, Frederick | en |
dc.contributor.author | Andermann, Eva | en |
dc.contributor.author | Desbiens, R | en |
dc.contributor.author | Cendes, F | en |
dc.contributor.author | Manson, J I | en |
dc.date.accessioned | 2015-05-16T02:57:06Z | |
dc.date.available | 2015-05-16T02:57:06Z | |
dc.date.issued | 1994-02-26 | en |
dc.identifier.citation | Lancet (london, England); 343(8896): 515-7 | en |
dc.identifier.govdoc | 7906762 | en |
dc.identifier.other | PUBMED | en |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/13162 | en |
dc.description.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. | en |
dc.language.iso | en | en |
dc.subject.other | Adolescent | en |
dc.subject.other | Carbamazepine.therapeutic use | en |
dc.subject.other | Diagnosis, Differential | en |
dc.subject.other | Diagnostic Errors | en |
dc.subject.other | Epilepsy, Frontal Lobe.diagnosis.drug therapy.genetics.physiopathology | en |
dc.subject.other | Female | en |
dc.subject.other | Genes, Dominant | en |
dc.subject.other | Genetic Diseases, Inborn.diagnosis.drug therapy.genetics.physiopathology | en |
dc.subject.other | Humans | en |
dc.subject.other | Male | en |
dc.subject.other | Pedigree | en |
dc.subject.other | Polysomnography | en |
dc.subject.other | Sleep Disorders.diagnosis | en |
dc.subject.other | Syndrome | en |
dc.title | Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. | en |
dc.type | Journal Article | en |
dc.identifier.journaltitle | Lancet | en |
dc.identifier.affiliation | Department of Neurology, Austin Hospital, Heidelberg (Melbourne), Australia | en |
dc.description.pages | 515-7 | en |
dc.relation.url | https://pubmed.ncbi.nlm.nih.gov/7906762 | en |
dc.type.austin | Journal Article | en |
local.name.researcher | Scheffer, Ingrid E | |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
item.openairetype | Journal Article | - |
item.grantfulltext | none | - |
item.languageiso639-1 | en | - |
crisitem.author.dept | Epilepsy Research Centre | - |
Appears in Collections: | Journal articles |
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