developmental and epileptic encephalopathy, 5

Developmental and epileptic encephalopathy, 5 is a severe neurodevelopmental disorder that presents in early infancy and is caused by mutations in the SPTAN1 gene. Affected children typically exhibit early-onset seizures, profound intellectual disability, and marked motor impairments such as spastic tetraplegia and microcephaly. Although specific prevalence data is not available, this condition is recognized as rare. The disorder primarily impacts the central nervous system and results in significant developmental challenges from a young age.

Children with developmental and epileptic encephalopathy, 5 almost universally present with spastic tetraplegia, intractable seizures, profound intellectual disability, progressive microcephaly, and reduced cerebral white matter volume, which are characteristic findings of this disorder. Some individuals may also exhibit additional neurological abnormalities such as cerebellar atrophy, atrophy or degeneration affecting the brainstem, cerebral cortical atrophy, and hypoplasia of the corpus callosum. Gastrointestinal issues like gastroesophageal reflux are noted in a subset of cases. Not all individuals experience all features, and severity varies considerably.

This condition results from a mutation in the SPTAN1 gene, which plays a critical role in maintaining the structural integrity of neurons and proper brain development. It is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene is sufficient to cause the disorder. As with many autosomal dominant conditions, genetic counseling is recommended to help families understand the implications and discuss recurrence risks.

Currently, management focuses on supportive care and symptom management, as no treatments are specifically approved for developmental and epileptic encephalopathy, 5. Treatment plans are tailored to the individual and may include the use of antiepileptic medications to help control seizures, along with supportive therapies to address motor and developmental challenges. A multidisciplinary approach involving neurology, physical therapy, and other specialists is essential, and regular surveillance is an integral part of long‐term care. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended for families.

Developmental and epileptic encephalopathy, 5 is a lifelong condition marked by significant neurodevelopmental impairments that typically persist into adulthood. With current standards of care, outcomes vary depending on the severity of symptoms, age at diagnosis, and access to specialized multidisciplinary support. Although many affected individuals experience ongoing challenges, some stabilization in symptoms may occur over time, and later motor difficulties can emerge in certain cases. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists familiar with this condition.

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.