developmental and epileptic encephalopathy 111

Developmental and epileptic encephalopathy 111 is a complex, multisystem condition affecting the brain as well as several other organ systems. It is characterized by severe neurological manifestations, including intractable seizures and significant developmental delay, as well as cardiac, visual, and other systemic features. The condition is associated with changes in the DEPDC5 gene, and it is inherited in an autosomal recessive pattern. Precise prevalence estimates are not well established, and clinical presentation can vary considerably among affected individuals.

Individuals with developmental and epileptic encephalopathy 111 often present with a range of clinical features spanning multiple organ systems. Neurologically, nearly all affected individuals experience various types of seizures including bilateral tonic-clonic and focal-onset seizures, along with severe global developmental delay that impacts cognitive and developmental functioning. In addition, structural brain abnormalities such as hypoplasia of the pons and polymicrogyria may be observed. Cardiac manifestations are also characteristic, with findings such as biventricular hypertrophy, sinus tachycardia, premature ventricular contractions, hypertension, hypoplastic left heart, and pulmonary artery stenosis. Other notable features include ocular issues like amblyopia, visual impairment, long eyelashes, and horizontal nystagmus, as well as craniofacial signs including thick eyebrows, frontal bossing, and macrocephaly. Additional systemic findings include recurrent respiratory infections, umbilical and inguinal hernias, nephrolithiasis, cryptorchidism, and episodes of sepsis. Not all individuals experience all these features, and severity varies considerably.

The underlying cause of developmental and epileptic encephalopathy 111 is linked to pathogenic variants in the DEPDC5 gene, which plays a role in cellular signaling pathways critical for brain development and function. This condition is inherited in an autosomal recessive manner, meaning that an affected individual has received two copies of the altered gene, one from each parent. In families where the parents share a common ancestor, the likelihood that both are carriers is increased, although they typically remain unaffected. Genetic counseling is recommended so that families can better understand the recurrence risks and discuss family planning options.

Currently, management focuses on supportive care and symptom management, as no treatments have been specifically approved for this condition. Treatment plans are tailored to the individual and typically involve a multidisciplinary team that may include neurologists, cardiologists, developmental specialists, and other experts as needed. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Patients and families are encouraged to discuss all available management options with their healthcare team, including genetic counseling, to determine the most appropriate strategy for their situation.

The clinical course of developmental and epileptic encephalopathy 111 is highly variable, with outcomes differing based on the severity of symptoms, age at diagnosis, and access to specialized care. Many individuals experience a lifelong condition with challenges related to both neurological and systemic manifestations, while modern standards of supportive care have improved overall quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and severity as well as symptom combinations can differ widely between affected individuals. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling to gain further guidance on long-term management.