developmental and epileptic encephalopathy 118

Developmental and epileptic encephalopathy 118 is a severe neurodevelopmental disorder that primarily affects brain function and structure. Individuals typically present in early childhood with profound global developmental delay, multiple types of seizures, and significant abnormalities on neuroimaging such as abnormal CNS myelination and cerebral atrophy. The condition is inherited in an autosomal dominant manner and presents with a constellation of neurological and systemic features. Precise prevalence estimates are not well established.

The clinical presentation centers on marked impairment of cognitive and neurological functions. Neurologically, affected individuals experience profound global developmental delay, various seizure types including epileptic spasm, focal-onset seizures, bilateral tonic-clonic seizures, focal impaired awareness seizures, and myoclonic seizures, as well as movement abnormalities such as tremor, dyskinesia, ataxia, gait disturbances, and general hypotonia. In addition, structural brain abnormalities like abnormal CNS myelination, delayed myelination, thin corpus callosum, cerebral cortical atrophy, and cerebellar atrophy are consistently observed. Beyond these central features, patients may also display autistic behavior, pseudobulbar signs, hyperbilirubinemia, macrocytic anemia, alopecia, recurrent lower respiratory tract infections, and flexion contractures. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis of developmental and epileptic encephalopathy 118 is under investigation. However, the condition is known to be inherited in an autosomal dominant pattern, meaning that a single altered copy of a gene can lead to the disorder. This inheritance pattern signifies that an affected individual has a 50% chance of passing the condition on to their offspring. Families are encouraged to consider genetic counseling to better understand the implications for family planning and recurrence risks.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the individual’s needs. As there are no approved treatments specifically for this condition, a multidisciplinary team is typically involved in care, including neurologists, developmental pediatricians, and other specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. In addition to addressing active symptoms, families are advised to discuss treatment options and the benefits of genetic counseling with their healthcare team.

Developmental and epileptic encephalopathy 118 is a lifelong condition with a course that can vary considerably among affected individuals. While the condition involves significant challenges during early development, many individuals experience a period of stabilization with supportive care, though neurological and motor issues may persist or evolve over time. Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition.