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Parent Information

Center for Functional Evaluation of Rare Variants

FAQs

What is meant by GRIN, GRIA, GRIK, and GRID genetic variation?

Anytime a change happens in the DNA for a gene this is referred to as variation.  A variant is also called a mutation as these terms are used interchangeably.  Several types of gene variation are possible, all of which mean the genetic DNA sequence code was altered in some way, for example, via deletion, insertion, or duplication via chromosomal rearrangement. Additionally, single nucleotides (referred to as A,C, G, and T) in the DNA sequence may be altered, changing the readout of the gene sequence into a protein. Proteins are made up of amino acids. The sequence of the genetic code defines the sequence of amino acids in the protein.  If the variant in the genetic sequence results in a change in the amino acid in the protein, this is called a missense mutation.  Most of the genetic variants CFERV investigates are rare missense variants; however, there are other types of variants (indels, frameshift, nonsense, and duplication mutations) that we can also investigate depending upon the location of the mutation.

What causes GRIN, GRIA, GRIK, and GRID gene variations?

Mutations occur spontaneously at or soon after conception, but the reasons for these changes are largely unknown.  In most cases, the change is de novo, occurring spontaneously in the genetic code of the sperm or egg that formed the child. It is also possible that a parent may have the mutation and pass it on to their children as an inherited or transmitted mutation.

Who can get GRIN, GRIA, GRIK, and GRID gene variants? 

Any individual can be born with one of these mutations.

What are the symptoms of GRIN, GRIA, GRIK, or GRID gene variations?

The symptoms of glutamate receptor mutations vary from person to person, depending on the specific gene affected and the type and location of the variant within the gene. Phenotypes are highly varied, but common ones include epilepsy, global developmental delay, hypotonia, intellectual disability, non-verbal or delayed speech, and autism.  See our Database with links to published scientific and medical journal reports for more detailed information.

Is there a cure for GRIN, GRIA, GRIK, or GRID gene variations?

Currently, there is no cure for these gene variants, as these changes occur at the genetic level of an individual.  However, doctors, researchers, and clinical institutions are planning and implementing clinical trials that may reduce associated symptoms.

What are my treatment options? 

Though there is no cure, treatment may be done through a symptomatic approach. Physical, occupational, and speech therapies can help children manage symptoms and reach developmental milestones. Epilepsy may be treated by a specialist. Additionally, The Cure Foundation has funded a retrospective clinical study of the utility of NMDA receptor antagonists, including memantine (Namenda), dextromethorphan, and ketamine (Ketalar) in the treatment of patients with Glutamate Receptor Associated Disorders that likely arises from a de novo GRIN genetic mutation or rare GRIN variants. Patients, with GRIN mutations, regardless of epilepsy or treatment, are also needed and encouraged to participate. 

How are GRIN, GRIA, GRIK, or GRID gene variations diagnosed?

Mutations are identified through a genetic blood test called Whole Exome Sequencing (WES), which examines an individual's whole genetic makeup. This is then compared to the genetic sequences of the parents to determine if the variant was inherited or de novo. 

What can I do to help?

If you wish to contribute to CFERV's mission to provide experimental data on the functional consequences of each mutation, please donate.  All donations directly support the evaluation of functional effects of new patient-derived genetic variants and the maintenance of the publicly accessible database for clinicians, scientists, and parents to obtain information about functional effects of genetic variants. 

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