Autosomal dominant rolandic epilepsy with speech dyspraxia.
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.
Scheffer
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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
D017668:Age of Onset; D000368:Aged; D020132:Anticipation, Genetic; D001072:Apraxias / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D018450:Disease Progression; D004569:Electroencephalography; D019305:Epilepsy, Rolandic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007360:Intelligence; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree