Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/13041
Title: Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.
Austin Authors: Scheffer, Ingrid E ;Jones, L;Pozzebon, M;Howell, R A;Saling, Michael M ;Berkovic, Samuel F 
Affiliation: Department of Neurology, Austin Hospital, Heidelberg, Melbourne, Australia
Issue Date: 1-Oct-1995
Publication information: Annals of Neurology; 38(4): 633-42
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.
Gov't Doc #: 7574460
URI: http://ahro.austin.org.au/austinjspui/handle/1/13041
DOI: 10.1002/ana.410380412
URL: https://pubmed.ncbi.nlm.nih.gov/7574460
Type: Journal Article
Subjects: Adult
Aged
Apraxias.genetics.physiopathology.psychology
Child
Child, Preschool
Electroencephalography
Epilepsies, Partial.genetics.physiopathology.psychology
Female
Humans
Male
Middle Aged
Neuropsychological Tests
Pedigree
Speech Disorders.genetics.physiopathology.psychology
Syndrome
Appears in Collections:Journal articles

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