developmental and epileptic encephalopathy, 35

Developmental and epileptic encephalopathy, 35 is a severe neurological condition that manifests in early life with persistent seizures and significant delays in overall development. It is linked to pathogenic variants in the ITPA gene, which is important for maintaining proper cellular nucleotide balance. This condition is inherited in an autosomal recessive manner and is extremely rare, affecting fewer than 1 in a million people. Although symptoms typically present in infancy, the severity and specific features can vary considerably among affected individuals.

Individuals with developmental and epileptic encephalopathy, 35 consistently experience frequent seizures and global developmental delays, which form the core of the condition’s clinical presentation. Many affected children also have feeding difficulties during infancy, while some develop additional features, including microcephaly, cataracts, or even cardiomyopathy as they grow older. The condition primarily affects the central nervous system, contributing to cognitive and developmental challenges. Not all individuals experience all features, and severity varies considerably.

The condition is caused by pathogenic variants in the ITPA gene. ITPA plays a crucial role in cellular nucleotide metabolism, and disruptions in its function lead to the neurological and systemic manifestations observed in the condition. It is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit a mutated copy of the gene from each parent. In families where parents share a common ancestor, the probability of both carrying the same rare variant is increased, making genetic counseling an important resource for family planning.

Currently, management focuses on supportive care and symptomatic treatment, with therapy plans tailored to the individual. A multidisciplinary team is typically involved to address the neurological, ophthalmologic, and cardiac aspects of the condition, and regular surveillance is an essential component of long-term care. Families are encouraged to discuss treatment options with their healthcare team and to pursue genetic counseling as part of the ongoing management strategy. There are no FDA-approved treatments available for this condition.

The course of developmental and epileptic encephalopathy, 35 is highly variable, with outcomes influenced by symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals live into adulthood, although the condition remains lifelong and may involve an initial period of significant neurological challenges. 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 explore management options and support services.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.