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rolandic epilepsy with speech dyspraxia & mental retardation (RESDX)
Pathology:
- idiopathic rolandic seizures occur during a period of significant brain maturation
- during this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention
Genetics:
- associated with defects in SRPX2 gene
General
polymicrogyria; micropolygyria
References
OMIM :accession 300388