Management

Genetic Counselling
For GRIA1, GRIA2 and GRIA4 the inheritance is autosomal dominant. Since the pathogenic variant occurred de novo in all patients, the recurrence risk in siblings of probands is low, i.e., <1% (although higher than in the general population due to the theoretical possibility of germline mosaicism).

In the case of GRIA3, the inheritance is X-linked, but both males and females can be affected. This is not attributed to skewed X-inactivation, but instead that variants can be caused by both loss-of-function and gain-of-function.

Management
Disease-specific management and surveillance strategies will be developed based on an extensive clinical data set and longitudinal data. For now, there are manly general advices:

Treatment of manifestations
Physiotherapy for feeding problems and motor delay, speech therapy and other interventions to augment communication, educational programs directed to specific disabilities identified.

Routine treatment of epilepsy, scoliosis, positional deformities of the feet, cryptorchidism and cardiac, renal, and urologic problems, etc.

Surveillance
Routine ophthalmologic examinations for hypermetropia and strabismus.
Monitoring for progressive spine deformities.

Treatment is symptomatic and multidisciplinary