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DC Field | Value | Language |
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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, Eva | en |
dc.contributor.author | Andermann, Frederick | en |
dc.contributor.author | Desbiens, R | en |
dc.contributor.author | Keene, D | en |
dc.contributor.author | Cendes, F | en |
dc.date.accessioned | 2015-05-16T02:56:50Z | |
dc.date.available | 2015-05-16T02:56:50Z | |
dc.date.issued | 1995-02-01 | en |
dc.identifier.citation | Brain : A Journal of Neurology; 118 ( Pt 1)(): 61-73 | en |
dc.identifier.govdoc | 7895015 | en |
dc.identifier.other | PUBMED | en |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/13158 | en |
dc.description.abstract | The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group of five families from Australia, Britain and Canada, containing 47 affected individuals, was studied. The largest family contained 25 affected individuals spanning six generations. This disorder is characterized by clusters of brief nocturnal motor seizures, with hyperkinetic or tonic manifestations. Subjects often experienced an aura, and remained aware throughout the attacks. Seizures occurred in clusters (mean eight attacks/night) typically as the individual dozed, or shortly before awakening. The epilepsy usually began in childhood, and persisted through adult life, with considerable intra-family variation in severity. Seizures were often misdiagnosed as benign nocturnal parasomnias, psychiatric and medical disorders. Interictal EEG studies were unhelpful. Ictal video-EEG studies showed that the attacks were partial seizures with frontal lobe seizure semiology. Neuro-imaging was normal. Carbamazepine monotherapy was frequently effective. This disorder showed autosomal dominant inheritance. Recognition of this entity is clinically important for diagnosis, appropriate therapy and genetic counselling. Moreover, this disorder now offers an opportunity to identify a gene for partial epilepsy. | en |
dc.language.iso | en | en |
dc.subject.other | Adolescent | en |
dc.subject.other | Adult | en |
dc.subject.other | Electroencephalography | en |
dc.subject.other | Epilepsy.drug therapy.genetics.physiopathology | en |
dc.subject.other | Female | en |
dc.subject.other | Frontal Lobe.physiopathology | en |
dc.subject.other | Hallucinations | en |
dc.subject.other | Humans | en |
dc.subject.other | Male | en |
dc.subject.other | Middle Aged | en |
dc.title | Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. | en |
dc.type | Journal Article | en |
dc.identifier.journaltitle | Brain | en |
dc.identifier.affiliation | Department of Neurology, Austin Hospital, Heidelberg, Melbourne, Victoria, Australia | en |
dc.description.pages | 61-73 | en |
dc.relation.url | https://pubmed.ncbi.nlm.nih.gov/7895015 | en |
dc.type.austin | Journal Article | en |
local.name.researcher | Scheffer, Ingrid E | |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.fulltext | With Fulltext | - |
item.grantfulltext | open | - |
item.languageiso639-1 | en | - |
item.openairetype | Journal Article | - |
crisitem.author.dept | Epilepsy Research Centre | - |
Appears in Collections: | Journal articles |
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File | Description | Size | Format | |
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7895015.pdf | 3.12 MB | Adobe PDF | View/Open |
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