Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/13041
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Scheffer, Ingrid E | en |
dc.contributor.author | Jones, L | en |
dc.contributor.author | Pozzebon, M | en |
dc.contributor.author | Howell, R A | en |
dc.contributor.author | Saling, Michael M | en |
dc.contributor.author | Berkovic, Samuel F | en |
dc.date.accessioned | 2015-05-16T02:49:01Z | |
dc.date.available | 2015-05-16T02:49:01Z | |
dc.date.issued | 1995-10-01 | en |
dc.identifier.citation | Annals of Neurology; 38(4): 633-42 | en |
dc.identifier.govdoc | 7574460 | en |
dc.identifier.other | PUBMED | en |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/13041 | en |
dc.description.abstract | We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain. | en |
dc.language.iso | en | en |
dc.subject.other | Adult | en |
dc.subject.other | Aged | en |
dc.subject.other | Apraxias.genetics.physiopathology.psychology | en |
dc.subject.other | Child | en |
dc.subject.other | Child, Preschool | en |
dc.subject.other | Electroencephalography | en |
dc.subject.other | Epilepsies, Partial.genetics.physiopathology.psychology | en |
dc.subject.other | Female | en |
dc.subject.other | Humans | en |
dc.subject.other | Male | en |
dc.subject.other | Middle Aged | en |
dc.subject.other | Neuropsychological Tests | en |
dc.subject.other | Pedigree | en |
dc.subject.other | Speech Disorders.genetics.physiopathology.psychology | en |
dc.subject.other | Syndrome | en |
dc.title | Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. | en |
dc.type | Journal Article | en |
dc.identifier.journaltitle | Annals of Neurology | en |
dc.identifier.affiliation | Department of Neurology, Austin Hospital, Heidelberg, Melbourne, Australia | en |
dc.identifier.doi | 10.1002/ana.410380412 | en |
dc.description.pages | 633-42 | en |
dc.relation.url | https://pubmed.ncbi.nlm.nih.gov/7574460 | en |
dc.type.austin | Journal Article | en |
local.name.researcher | Berkovic, Samuel F | |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.openairetype | Journal Article | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Clinical Neuropsychology | - |
crisitem.author.dept | The Florey Institute of Neuroscience and Mental Health | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
Appears in Collections: | Journal articles |
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