developmental and epileptic encephalopathy, 21

Developmental and epileptic encephalopathy, 21 is a severe neurodevelopmental disorder that affects the brain and is caused by mutations in the NECAP1 gene. This condition typically presents in early infancy, with affected children experiencing significant neurological disturbances, including intractable seizures and profound developmental delay. Although precise prevalence estimates are not available, it is considered extremely uncommon. The condition has an autosomal recessive inheritance pattern, meaning that two copies of the altered gene are necessary for an individual to be affected.

Individuals with this condition present with a constellation of clinical features that reflect both neurological and systemic involvement. Characteristic findings include decreased fetal movement, axial and generalized hypotonia, and feeding difficulties evident from infancy. Seizure activity is a prominent feature with both generalized tonic seizures and multifocal seizures, accompanied by interictal epileptiform activity and signs of brain atrophy. Profound global developmental delay is uniformly present, reflecting significant cognitive and developmental challenges. Not all individuals experience all features, and severity varies considerably.

The underlying cause of developmental and epileptic encephalopathy, 21 is a mutation in the NECAP1 gene. NECAP1 plays a role in proper neuronal function, and disruptions in its normal function can impair brain signaling. This condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene—one from each parent—to be affected. Families may benefit from genetic counseling to understand the inheritance pattern and discuss family planning options.

Currently, management of developmental and epileptic encephalopathy, 21 focuses on supportive care and symptom management. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include pediatric neurologists, epileptologists, and rehabilitation specialists. While no specific therapies are approved for this condition, interventions such as seizure management, physical and occupational therapy, and nutritional support form the cornerstone of care. Genetic counseling is recommended to assist families in understanding the condition and exploring available resources. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their situation.

The long‐term outlook for individuals with developmental and epileptic encephalopathy, 21 is highly variable. With current standards of care, outcomes range widely, and many individuals experience a lifelong course marked by significant challenges, including persistent cognitive and developmental impairments. Outcomes described in medical literature continue to evolve as standards of care improve, and individual experiences with this condition differ significantly. Families often find it helpful to connect with specialists familiar with this condition, and genetic counseling can provide guidance regarding inheritance and family planning.

Clinical trials are underway exploring new treatment approaches for developmental and epileptic encephalopathy, 21. Individuals interested in learning more about emerging therapies can search ClinicalTrials.gov or discuss potential trial eligibility with their care team.