Currently, there is no known cure for a GNB1-related condition. However, early interventions and education programs can maximize learning and social development, and medications can help manage the symptoms. Aggressive treatment of seizure disorder is particularly important to maximize developmental outcome.
We recommend regular health surveillance including:
- Review by pediatrician/family doctor if any concerns regarding possible seizures with a low threshold for referral to a neurologist for a 48 hour EEG.
- Close developmental surveillance by a pediatrician with appropriate referral for early intervention and ongoing support at and after school. Non-ambulatory individuals could potentially improve with intensive physical therapy over time and gain independent ambulation, as was suggested by one child who achieved independent ambulation at the age of 9 years. Improved communication with sign language was documented in two individuals with normal hearing, highlighting the potential benefit of sign language in affected individuals with verbal delay.
- Consider a referral for an ophthalmology and audiology evaluation.
- Consider surveillance for hematologic malignancies via periodic blood counts. Although only one individual with a GNB1 variant has been reported with acute lymphoblastic leukemia, somatic mutations in GNB1 have been seen in hematologic malignancies.