EPILEPSY WITH AUDITORY FEATURES (EAF)

GENETICS

PATTERN OF INHERITANCE

EAF mostly occurs sporadically. When familial, it has autosomal dominant inheritance (ADEAF), with incomplete penetrance.

KNOWN GENES

Pathogenic variants or microdeletions affecting LGI1 or RELN are identified approximately half of ADEAF cases. Pathogenic variants in MICAL1 are a rarer cause. Pathogenic variants in DEPDC5, CNTNAP2 and SCN1A have also been reported.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of typical seizures with a dominant inheritance pattern with incomplete penetrance is expected for the diagnosis of ADEAF. History should be carefully sought, as seizures comprise such mild symptoms that some individuals in families have not recognized their seizures.