Professionals

Prevalence
The AP3B2-associated neurological disorder is rare and its prevalence is unknown.

Clinical characteristics
Individuals with AP3B2-associated neurological disorder show epileptic encephalopathy, global developmental delay, seizures and poor eye contact.  

Molecular characteristics
Homozygous or compound heterozygous variants in AP3B2 cause the autosomal recessive neurological disorder Early-onset epileptic encephalopathy 48.

Management
Treatment is symptomatic and multidisciplinary.