autosomal dominant nocturnal frontal lobe epilepsy 5

Autosomal dominant nocturnal frontal lobe epilepsy 5 (ENFL5) is a neurological condition in which affected individuals experience brief seizures that typically begin during childhood and occur most often during sleep. The condition is linked to pathogenic changes in the KCNT1 gene, which plays an important role in the way brain cells transmit electrical signals. Because it follows an autosomal dominant inheritance pattern, a change in just one copy of the gene can lead to symptoms, though severity and age of onset vary widely. Precise prevalence figures have not been established, but the condition is considered uncommon. Both males and females can be affected, and symptoms may arise in early childhood or later in adolescence.

The core feature of ENFL5 is nocturnal focal seizures that originate in the frontal lobe of the brain, often causing sudden arousals from sleep, complex motor movements, or brief vocalizations. Many individuals also have neurological and behavioral challenges such as intellectual disability, learning difficulties, or atypical and aggressive behaviors. Some experience status epilepticus, a prolonged seizure state that requires emergency care. Psychiatric manifestations, including personality changes or episodes of psychosis, have been reported in a subset of people. Not all individuals experience all features, and severity varies considerably, even among members of the same family.

ENFL5 results from pathogenic variants in the KCNT1 gene. KCNT1 encodes a potassium channel protein that helps regulate the excitability of neurons; when the channel does not function properly, brain cells can become overly active and more prone to generating seizures during sleep. The condition is inherited in an autosomal dominant pattern, meaning an affected parent has a 50 percent chance of passing the altered gene to each child. In families with a known KCNT1 variant, genetic counseling can clarify individual risks, discuss reproductive options, and address the possibility that symptom severity may differ from one relative to another (variable expressivity).

Currently, management focuses on supportive care and symptom control. Standard anti-seizure medications, individualized by the treating neurologist, aim to reduce seizure frequency and severity. Some individuals benefit from rescue therapies for prolonged seizures, behavioral therapy, or educational support to address cognitive and psychosocial needs. A multidisciplinary team—often including neurology, psychology, and special education professionals—helps tailor care to each person’s challenges and goals. Patients should discuss treatment options with their healthcare team to determine which strategies best fit their specific situation, and families may find it valuable to explore genetic counseling for ongoing guidance.

Long-term outcomes vary widely. Some individuals achieve good seizure control and lead independent lives, while others have persistent seizures and ongoing cognitive or behavioral difficulties that require significant support. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with epilepsy specialists familiar with KCNT1-related disorders and with support groups that share practical coping strategies.