How is GRIN2B diagnosed?

Genetic testing is required to diagnose a GRIN2B-related disorder. Additional tests may also be done, including: Electroencephalogram (EEG) to look for evidence of abnormal brain activity and seizures. Magnetic resonance imaging (MRI) to look for changes in brain structure.

What is GRIN2B gene?

The GRIN2B gene provides instructions for making a protein called GluN2B. This protein is found in nerve cells (neurons) in the brain, primarily during development before birth. The GluN2B protein is one component (subunit) of a subset of specialized protein structures called NMDA receptors.

What is GRIN2B syndrome?

GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them.

Where is GRIN2B located?

GRIN2B is a gene located on the short arm (called “p”) of the 12th chromosome at 12p13. 1. It is one member of a family of 7 genes, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, and GRIN3B.

How many people have a GRIN Disorder?

Estimates published suggest that approximately 1,281 babies are born with GRIN Disorder each year in the United States alone. This estimate could hypothetically put the number of people living with GRIN Disorder around the world at well over 1 million.

What causes GRIN Disorder?

GRIN Disorder is part of a larger family of genetic diseases related to ionotropic glutamate receptors and is caused by a change in one of seven GRIN genes including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These genes contain the code to create NMDA receptors, which are essential for learning and memory.

What is GRIN Disorder life expectancy?

Most of the patients with GRIN disorders will have a normal life span. The main influence of GRIN genes is the brain, therefore the disorders do not involve other organs.

How rare is GRIN1?

Using the algorithm of López-Rivera and colleagues, Dr. Lemke calculates that GRIN Disorders due to variants in either GRIN1, GRIN2A, GRIN2B or GRIN2D occur in one out of every 5,208 births (19.2 per 100,000).

What age is too early to diagnose neurodevelopmental disorder?

Diagnosing neurodevelopmental disorders in young children can be difficult: many affected children may not receive a diagnosis until they enter preschool or kindergarten. For this reason, the indicators here show children ages 5 to 17 years.