developmental and epileptic encephalopathy, 25

Developmental and epileptic encephalopathy, 25 is an early-onset neurological disorder characterized by severe seizures and significant delays in development, including absent speech and hypotonia. The condition is caused by mutations in the SLC13A5 gene, which plays a critical role in citrate transport in brain cells. It primarily presents in infancy with symptoms such as epileptic encephalopathy and global developmental delay. Because precise prevalence data is not available, the condition is understood to be very rare and is diagnosed based on clinical features and genetic testing.

Affected children typically present with a constellation of neurological challenges that include axial hypotonia, absent speech, global developmental delay, and epileptic encephalopathy – features that are consistently noted in all cases. Many children also experience status epilepticus, while a subset has limb hypertonia, reduced eye contact, choreoathetosis, or dystonia. The central nervous system involvement is evident from the cognitive and developmental delays, and families are encouraged to understand that not all individuals experience every feature, with severity varying considerably between cases.

This condition is caused by mutations in the SLC13A5 gene, which is responsible for encoding a citrate transporter integral to normal brain function. It is inherited in an autosomal recessive pattern, meaning that an affected child has inherited two mutated copies of the gene, one from each parent. In families where both parents are carriers, there is a 25% chance with each pregnancy of having an affected child. Genetic counseling is recommended to help families understand the inheritance pattern and discuss options for family planning.

Currently, management of developmental and epileptic encephalopathy, 25 focuses on supportive care and symptom management, as there are no specific treatments approved for this condition. A multidisciplinary approach, which may involve pediatric neurologists, developmental specialists, and therapists, is key to addressing seizure control, developmental needs, and overall quality of life. Genetic counseling is also recommended to support affected families, and treatment options should be discussed with the healthcare team to tailor interventions to the individual’s needs.

The outlook for individuals with developmental and epileptic encephalopathy, 25 is variable, with outcomes largely depending on the severity of the neurological involvement and access to supportive care. The condition follows a lifelong course marked by early-onset seizures and developmental delays, and while many individuals face significant challenges, advances in multidisciplinary care have improved quality of life over time. It is important to recognize that severity and symptoms vary widely between individuals, and families are encouraged to connect with specialists and genetic counselors to obtain personalized guidance as research and care standards continue to improve.

There are clinical trials currently underway exploring new treatment approaches for developmental and epileptic encephalopathy, 25. Individuals interested in participating in research or learning more about emerging therapies can search ClinicalTrials.gov or consult their care team regarding eligibility.