EPILEPSY WITH MYOCLONIC ATONIC SEIZURES (EMAtS)

GENETICS

PATTERN OF INHERITANCE

Complex/polygenic inheritance in most cases.

KNOWN GENES

A minority of cases have pathogenic variants in SCN1A, SCN1B, SCN2A, CHD2 or other genes. Approximately 5% of patients have glucose transporter 1 deficiency syndrome due to pathogenic variants in SLC2A1. This disorder is important to diagnose due to implications for treatment.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of seizures/epilepsy is found in about a third of cases and is associated with favourable prognosis. There may be a family history of genetic epilepsy with febrile seizures plus spectrum.