Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

Symptoms, Doctors, Treatments, Advances & More

Sleep-related hypermotor epilepsy (SHE) is a form of epilepsy that is characterized by seizures that typically begin while a person is sleeping. The seizures often appear during childhood or adolescence and involve varying degrees of muscle (motor) activity, which can include large, complex, and repetitive movements (hyperkinetic seizures). Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a form of SHE that runs in families. The specific features of ADSHE can vary, even among members of the same family.

Genetic changes that cause disease or that increase the risk of disease are sometimes called mutations or pathogenic variants. Pathogenic variants in one of several different genes can cause ADSHE.

SHE is an uncommon form of epilepsy, affecting about 1.8 out of every 100,000 individuals. More than 100 families with ADSHE have been reported in the medical literature.

ADSHE is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 60 to 80 percent of people who inherit a pathogenic variant that is associated with ADSHE develop the signs and symptoms of the disorder. This situation is called reduced penetrance. It is not clear why some people with an ADSHE gene variant develop signs and symptoms of the disorder while others do not.

Published Date: August 01, 2025
Published By: National Institutes of Health