rolandic epilepsy, mental retardation, speech dyspraxia, X-linked
rolandic epilepsy, mental retardation, speech dyspraxia, X-linked
A condition (OMIM:300643) characterised by rolandic seizures with oral and speech dyspraxia and mental retardation. Rolandic seizures occur during periods of significant brain maturation, when focal discharges may cause developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.Molecular pathology
Caused by defects of SRPX2, which encodes a secreted protein that may play a role in the development of speech and language centres in the brain.