FAMILIAL MESIAL TEMPORAL LOBE EPILEPSY (FMTLE)

GENETICS

PATTERN OF INHERITANCE

Complex/polygenic inheritance, with rare families reported with Mendelian inheritance, which may be recessive or dominant.

KNOWN GENES

Rare families with pathogenic variants in DEPDC5 have been described.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of seizures with mesial temporal features is required for the diagnosis of this syndrome. History should be carefully sought, as seizures comprise mild deja vu and may not have been diagnosed.