developmental and epileptic encephalopathy, 15

Developmental and epileptic encephalopathy, 15 is a severe neurological disorder that primarily affects infants and young children. This condition is associated with pathogenic variants in the ST3GAL3 gene, which plays a key role in processes critical for normal brain development. Affected individuals present early in life with epileptic spasms, abnormal EEG findings such as hypsarrhythmia, and profound developmental delays. Precise prevalence estimates are not well established, underscoring its rarity and the need for further study.

The clinical features of this condition are predominantly neurologic. All affected individuals experience epileptic spasms, hypsarrhythmia, and epileptic encephalopathy, along with reduced eye contact, persistent primitive reflexes, hypotonia, and irritability. In addition, severe global developmental delay is always present, and various seizure types—including atonic, myoclonic, focal clonic, bilateral tonic-clonic, and tonic seizures—may occur in a subset of patients. Not all individuals experience every feature, and severity varies considerably, significantly impacting developmental and cognitive functioning.

This condition is caused by pathogenic variants in the ST3GAL3 gene. The ST3GAL3 gene is involved in glycosylation processes that are important for brain development and function. It is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited two copies of the altered gene, one from each parent. Genetic counseling is recommended to help families understand the implications of this inheritance pattern and to discuss recurrence risks.

Currently, management focuses on supportive care and symptom management, with no treatments specifically approved for this condition. A multidisciplinary team—including neurologists, developmental specialists, and genetic counselors—plays a central role in providing comprehensive care. Regular surveillance is an integral part of long-term management to detect emerging complications early. Patients and families should discuss treatment options with their healthcare team to determine the most appropriate strategies based on individual needs.

Developmental and epileptic encephalopathy, 15 is a lifelong condition with a highly variable course. Outcomes depend on the severity of symptoms, age at diagnosis, and access to specialized care, with many individuals facing significant developmental challenges. The condition may progress, stabilize, or show a variable course in different individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors to discuss care options and available support resources.

Clinical trials are underway exploring new treatment approaches for developmental and epileptic encephalopathy, 15. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team to learn more about eligibility and emerging therapies.