Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/9296
Title: Autosomal dominant rolandic epilepsy with speech dyspraxia.
Authors: Scheffer, Ingrid E
Affiliation: Departments of Neurology, Austin and Repatriation Medical Centre, Royal Children's Hospital, Monash Medical Centre, and University of Melbourne, Australia. Scheffer@austin.unimelb.edu.au
Issue Date: 2000
Citation: Epileptic Disorders : International Epilepsy Journal With Videotape; 2 Suppl 1(): S19-22
Abstract: Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia (ADRESD) is a rare disorder which highlights the relationship between Benign Rolandic Epilepsy (BRE) and speech and language disorders. Subtle speech and language disorders have recently been well characterised in BRE. ADRESD is associated with long term, more severe speech and language difficulties. The time course of rolandic epilepsy in ADRESD is typical of that of BRE. ADRESD is inherited in an autosomal dominant manner with anticipation. It is postulated that the anticipation may be due to an, as yet unidentified, triplet repeat expansion in a gene for rolandic epilepsy. BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE.
Internal ID Number: 11231219
URI: http://ahro.austin.org.au/austinjspui/handle/1/9296
URL: http://www.ncbi.nlm.nih.gov/pubmed/11231219
Type: Journal Article
Subjects: Age of Onset
Aged
Anticipation, Genetic
Apraxias.genetics
Child
Child, Preschool
Cognition
Disease Progression
Electroencephalography
Epilepsy, Rolandic.complications.genetics.physiopathology.psychology
Female
Genes, Dominant
Humans
Infant
Intelligence
Magnetic Resonance Imaging
Male
Pedigree
Appears in Collections:Journal articles

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