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Female restricted epilepsy with intellectual disability

Orpha number ORPHA101039
Synonym(s) EFMR
Familial epilepsy and mental retardation limited to females
Prevalence -
Inheritance
  • Unknown
Age of onset -
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Female restricted epilepsy with intellectual disability (EFMR) is a rare X-linked inherited syndrome affecting females, characterized by the onset of epilepsy in infancy that is often provoked by fevers and that resembles Dravet syndrome (see this term), with seizures occurring in clusters that usually remit in adolescence and that is caused by mutations in the PCDH19 gene (Xq22.1). Males do not suffer from seizures but have been reported to display rigid personalities.


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