This website provides information on patients with mutations in the GRIA1, GRIA2, GRIA3 or GRIA4 genes, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the GRIA, GRIA2, GRIA3, and GRIA4 gene is a multisystem disorder characterized by global developmental delay which is apparent from infancy or early childhood, resulting in variable intellectual disability ranging from mild impairment with an ability to attend special schools to profound impairment with absent speech and none to limited social skills. Although the majority of patients eventually learn to walk, most are late to reach this milestone and have an unsteady gate. Some may experience developmental regression or stagnation and many have behavioral difficulties including autistic features, reduced attention span, auto-aggression, anxiety and hypersensitivity to stimuli. While some patients have congenital hypotonia (loss of body tone) other affected infants show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop epileptic seizures of variable severity early in life.
Not all individuals with a mutation in the GRIA1-4 genes have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GRIA1, GRIA2, GRIA3 or GRIA4 genes.
Allan Bayat, MD, Department of Genetics and Precision Therapy, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark, email@example.com