EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES (EIMFS)

GENETICS

PATTERN OF INHERITANCE

Most cases are due to de novo gene abnormalities, however rarely the cause may inherited (reported for KCNT1).

KNOWN GENES

KCNT1 is the commonest cause found (in half of cases), other genes associated with this syndrome include SCN1A, SCN2A, TBC1D24 and others. Some children have been found to have congenital disorders of glycosylation.

FAMILY HISTORY OF SEIZURES/EPILEPSY

In rare cases where the cause is a familial pathogenic variant in KCNT1, family members may have a focal epilepsy or sleep-related hypermotor epilepsy.