epilepsy with mental retardation limited to females (efmr)

Epilepsy with Mental Retardation limited to Females (EFMR) is part of our Childhood Epilepsy Panel (NGS). Click here to access a complete list of the genes covered in this panel. 

 

DESCRIPTION

 

This disorder is characterized by its unusual pattern of inheritance, being transmitted as an X-linked dominant, affecting females exclusively while leaving carrier males (seemingly) unaffected and phenotypically normal. Age of onset averages 14 months, and tends to remit around the 12 years of age.

 

Affected individuals experience convulsive seizures, being tonic-clonic the most usual, although other types (absence, myoclonic, tonic...) can also appear. Developmental regression as a consequence of the seizures or psychiatric issues are also linked to this syndrome.

 

Alternative names: Juberg-Hellman Syndrome, Epilepsy Limited to Females with Intellectual Dissability (EFID)

 

All of Amplexa's neurology tests can be found in our Neurology Brochure.


Additional sources: I.E. Schaffer et al, 2008.

neurology