developmental and epileptic encephalopathy, 60

Developmental and epileptic encephalopathy, 60 is a severe neurological condition that primarily affects infants and young children. It is associated with pathogenic variants in the CNPY3 gene, which has a critical role in normal brain development. Affected individuals typically present with profound developmental delays, severe seizures, and significant impairments in motor skills. Precise prevalence estimates are not well established, and families should be aware that the condition has a highly variable clinical presentation.

The clinical presentation is marked by a constellation of neurological features. Core symptoms include epileptic spasms, hypsarrhythmia, and seizures, along with global developmental delay, profound intellectual disability, and an inability to walk. Brain imaging often reveals global brain atrophy and hippocampal malrotation. In addition, some individuals experience EEG findings such as burst suppression, as well as myoclonic, focal impaired awareness, and tonic seizures, with spastic tetraplegia reported in a subset. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the CNPY3 gene. The disorder follows an autosomal recessive inheritance pattern, which means that an affected individual inherits two changed copies of the gene, one from each parent. When both parents are carriers, there is a 25% chance with each pregnancy for the condition to occur. Genetic counseling is recommended to help families understand these inheritance implications and to guide future family planning decisions.

Currently, management focuses on supportive care and symptom management, with treatment plans tailored to the individual. A multidisciplinary team is typically involved in addressing seizures, developmental delays, and motor impairments through various supportive therapies. Genetic counseling is recommended so that families can explore appropriate care options and understand inheritance risks. Patients should discuss treatment options with their healthcare team to determine which interventions may be most appropriate for their specific situation.

The course of developmental and epileptic encephalopathy, 60 is highly variable, with outcomes that depend on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals may experience an initial period of severe symptoms followed by a phase of stabilization, although some may encounter further motor challenges later in life. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists familiar with this condition and to seek genetic counseling for ongoing support.