developmental and epileptic encephalopathy 96

Developmental and epileptic encephalopathy 96 (DEE96) is a severe neurological condition that presents early in life with significant impairments. It is associated with pathogenic variants in the NSF gene, which plays a critical role in cellular transport and is expressed in the brain. Affected individuals typically exhibit profound intellectual disability, abnormal EEG patterns with burst suppression, and neonatal respiratory distress. Prevalence estimates are not well established, and the condition is considered to affect only a small subset of the population.

Individuals with DEE96 experience characteristic neurological features including profound intellectual disability, epileptic encephalopathy with burst suppression on EEG, and neonatal respiratory distress, which are consistently observed. In addition, a subset of affected individuals may have epileptic spasms, tonic seizures, primary microcephaly, hydrops fetalis, and be small for gestational age. Not all individuals experience all features, and severity varies considerably. These challenges can impact development, communication, and overall daily functioning.

DEE96 is linked to pathogenic variants in the NSF gene. The disorder follows an autosomal dominant inheritance pattern, meaning that a single altered copy of the gene can result in the condition. This genetic pattern implies that an affected individual has a 50% chance of passing the alteration to their offspring, though individual experiences may vary. Genetic counseling is recommended to help families understand the implications of this inheritance pattern and discuss appropriate testing options.

Currently, management of DEE96 focuses on supportive care and symptom management, tailored to the individual’s needs. As there are no FDA-approved treatments specifically for DEE96, care is provided by a multidisciplinary team addressing aspects such as seizure control, respiratory support, and developmental therapies. Regular surveillance is an essential part of long-term care to identify emerging complications, and genetic counseling is recommended to discuss treatment options and inheritance implications.

Outcomes in DEE96 vary considerably, with the clinical course dependent on the severity of neurological impairment and access to specialized care. The condition is characterized as a lifelong neurodevelopmental disorder where individuals experience significant challenges from early in life, with an initial phase followed by periods of relative stabilization and variable long-term outcomes. With current standards of care, many individuals benefit from ongoing supportive therapies, and outcomes continue to evolve as treatment approaches improve. Families often find it helpful to connect with neurology and genetics specialists for sustained support and guidance.