Clinic for BPAN and WDR45-related Disorders
The Clinic for BPAN and WDR45-related Disorders offers specialized, ongoing treatment for patients who have a diagnosis of BPAN and other WDR45-related Disorders. Leveraging the expertise of CHOP’s Epilepsy Neurogenetics Initiative (ENGIN), a specialized program that provides access to expert care for children with genetic neurodevelopmental disorders, the clinic brings together a team of experts to manage the unique needs of these patients. During visits to the clinic, families consult with an attending neurologist and a genetic counselor with specialty training and experience in the diagnosis and management of neurogenetic conditions, as well as occupational and physical therapists, members of our research team, and attending neurologists who are deeply knowledgeable in BPAN and WDR45-related disorders.
Who we treat
Any child with a confirmed or suspected BPAN or WDR45-related disorder may be eligible for referral to our program. Your path will depend primarily on whether or not the child already has a diagnosis in hand. No matter what, we are here to help and guide you to the right place.
Why Choose CHOP for Treatment of WDR45-Related Disorders?
Families come to our Clinic for BPAN and WDR45-related Disorders from all over the world. Members of our team are internationally recognized experts who specialize in the unique management needs of children with this rare genetic condition. Our team of experts in epilepsy, progressive brain disorders, genetics, physical therapy, occupational therapy, and neuropsychology take a team approach to care for children. In addition, through the clinic, a child has access to any other medical specialists they may need. This includes the full range of epilepsy therapies provided through CHOP’s Pediatric Epilepsy Program, such as epilepsy management, dietary treatment, epilepsy surgery, cutting-edge research, clinical trials and ongoing follow-up care.
All individuals seen in this clinic are offered the opportunity to participate in our focused research studies, which includes collecting natural history data and biospecimens to further our understanding of the natural history and disease mechanisms of BPAN and WDR45-related disorders.
This clinic is part of the Epilepsy Neurogenetics Initiative (ENGIN). ENGIN integrates genetic testing into the diagnosis and treatment of children with difficult-to-treat or unexplained epilepsies, genetic epilepsy syndromes and other genetic neurodevelopmental disorders. We combine cutting-edge clinical care and advanced genetic testing with innovative research to identify the underlying cause of a child’s epilepsy and develop an individualized approach to treatment and management.