What is GRIN Syndrome?
GRIN Syndrome is a rare genetic disorder, which is associated with epilepsy, developmental delay, learning and behavioral problems and low muscle tone. Problems with speech, growth, nutrition and motor skills also occur.
What Causes GRIN Syndrome?
GRIN is the abbreviation of "Glutamate Receptor Ionotropic N-methyl-D-Aspartate". The "recipe" for the production of the GRIN protein is stored in our genetic material, the DNA. The DNA contains the genetic code for our hereditary characteristics, the genes. The DNA is packed in chromosomes. There is a family of 7 different GRIN genes (GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A and GRIN3B).
The GRIN1 protein, together with 3 other GRIN proteins, forms the so-called NMDA receptor. This receptor is very important for the communication between your brain cells. When your brain cells communicate, one brain cell releases a substance, glutamate, which binds to the NMDA receptor of the other brain cell. This activates the NMDA channel and opens it. The receiving brain cell can then process the obtained signal. This process is essential for remembering and processing new information ("synaptic plasticity"). You could therefore see the receptor as the earpiece of the brain cell. Due to an error in one of the GRIN genes, the NMDA receptor no longer works not good enough or is too active, which can both lead to various problems.
How common is GRIN Syndrome?
The GRIN Syndrome is a very rare condition, with an estimated few dozen patients in the Netherlands. Because it was discovered quite recently, it is not known exactly how often it occurs. GRIN Syndrome occurs in both boys and girls.
The GRIN clinic is currently under development. We try to map the problems of this patient group and create a national protocol for follow-up.
Pediatrician Genetic & Congenital Disorders and coordinator: Dr. Danielle Veenma
Pediatric neurologist and coordinator: Drs. S.M. Koudijs
In order to provide the best possible care to patients with a rare condition, it is essential that global knowledge about the condition is gathered. Nationwide, centers of expertise have been set up to stimulate care for rare disorders and to gather knowledge. For the formal recognition of an expertise center by the Ministry of Health, an important condition is that the expertise center gathers, analyzes and shares knowledge through publications. These can be publications in scientific journals, but also treatment guidelines for health care professionals or information brochures for patients or caregivers. We optimize care and research within ENCORE through standardized follow-up and close collaboration between doctors and researchers. That way, we can ultimately develop better treatments for rare conditions. You may therefore be asked to participate in research. Participation in research is always on a voluntary basis. The data obtained is stored and analyzed in an anonymous form. All research has been approved in advance by an ethics review committee.
To learn more about research into GRIN Syndrome at ENCORE, click here