What is GRIN2B syndrome?

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.

How rare is GRIN2B?

To date, fewer than 100 individuals have been reported. The prevalence of GRIN2B-related neurodevelopmental disorder among individuals with neurodevelopmental disorders and/or childhood-onset epilepsy is around 0.2% [Platzer et al 2017].

What is GRIN1 mutation?

Pathogenic variants (“mutations”) in the GRIN1 gene cause a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delays, movement disorders, and features of autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely.

What does RAI1 gene do?

The RAI1 gene provides instructions for making a protein that is active in cells throughout the body, particularly nerve cells (neurons) in the brain. Located in the nucleus of the cell, the RAI1 protein helps control the activity (expression) of certain genes.

How many people have grin1?

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.

Is Polymicrogyria curable?

The Polymicrogyria (PMG) malformation cannot be reversed, but the symptoms may be treated in children and adults. The first-line treatment for persons with seizures is anti-seizure medications, and the medication chosen depends on the type of seizures or epilepsy syndrome.

Is Polymicrogyria a disability?

Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects.