CHILDHOOD ABSENCE EPILEPSY

GENETICS

PATTERN OF INHERITANCE

Complex inheritance.

KNOWN GENES

In children who have absences that have onset under the age of 4 years of age, 10% have GLUT1 deficiency (a mutation in SLC2A1). Other genes linked to this syndrome include GABRG2 and CACNA1A.

FAMILY HISTORY OF SEIZURES/EPILEPSY

Up to 20% of patients may have a first-degree relative with seizures. When a family history is present, the affected family members typically have childhood absence epilepsy or a related genetic/idiopathic generalized epilepsy e.g. juvenile absence epilepsy, juvenile myoclonic epilepsy or less commonly genetic epilepsy with febrile seizures plus.