developmental and epileptic encephalopathy 116

Developmental and epileptic encephalopathy 116 is a severe neurologic condition that primarily affects brain development and function. It is characterized by profound global developmental delay, multiple types of seizures, and impaired myelination within the central nervous system. Genetic variants in the GLUL gene, which plays an important role in metabolic processes, are associated with this condition, which follows an autosomal dominant inheritance pattern. Although prevalence data are not well established, the complexity of the condition underscores the need for careful evaluation by experienced clinicians.

Individuals with this condition commonly present with profound global developmental delay and epileptic encephalopathy, accompanied by CNS hypomyelination and hypotonia. Seizure types are varied and may include generalized-onset, myoclonic, focal-onset, and, in some cases, bilateral tonic-clonic seizures. Additional neuroimaging findings, such as a thin corpus callosum and dilation of Virchow-Robin spaces, are observed in a subset of affected individuals, while other features like hypoglutaminemia and infantile spasms occur less frequently. Not all individuals experience every feature, and severity varies considerably, with cognitive and developmental challenges being central to the clinical picture.

The condition is caused by pathogenic variants in the GLUL gene, which is involved in key metabolic pathways essential for proper neural function. It follows an autosomal dominant inheritance pattern, meaning that a single altered copy of the gene can result in the disorder. This also implies that each child of an affected individual has a 50% chance of inheriting the genetic change. Genetic counseling is recommended for affected families, as it can provide valuable insights into recurrence risks and family planning options.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team, including neurologists and other specialists, to address developmental challenges, seizure control, and overall well-being. Regular surveillance and ongoing monitoring are essential components of care, helping to identify potential complications early. Genetic counseling is also recommended to help families understand their options and plan for the future.

Outcomes vary depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals benefit from interventions that help manage seizures and support developmental needs, although the condition remains lifelong with a variable course. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to consult with expert centers for ongoing guidance and support.