Heather Olson, MD, MS, Neurologist at Boston Children’s and Neurology Instructor at Harvard Medical, gives an overview of FOXG1 syndrome.
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. The condition can be caused by mutations within the FOXG1 gene or a deletion of genetic material from the region of the long arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition. While it is possible for parents to be carriers, most cases result from new mutations.
The FOXG1 Research Foundation, in collaboration with Ciitizen, has a natural history study which Dr. Olson urges FOXG1 syndrome patients and physicians of patients to consider. To learn more about this study, go here.
To learn more about FOXG1 syndrome and rare neurological disorders, visit checkrare.com/diseases/neurology