GRIN1 SYMPTOMS
Some of the most common health issues and symptoms among GRIN1 patients, as reported by parents of patients in 2019.
Common
- Intellectual disability / global developmental delay
- Epilepsy / seizures (from birth, or may develop later)
- Muscular hypotonia (low tone that can cause feeding difficulties and/or constipation)
- Cortical Visual Impairment (caused by problems in the brain rather than the eyes)
- Hyperkinetic movement disorders (including dystonia)
- Sleep problems
- Reflux (also known as GERD)
- Difficulty with gross and/or fine motor skills
- Non verbal / delayed speech
- Behavioural difficulties (may relate to communication difficulties / anxiety)
- Difficulty with walking (some can walk, with or without assistance)
- Autism / autistic traits
- Sensory issues / sensory integration challenges and repetitive movements (such as hand chewing / wringing / tapping)
- Visual problems (e.g. squint, astigmatism, myopia, anisometropia)
- Drooling
However, some typical characteristics of GRIN1 patients are:
- Love of fresh air / music / water / cuddles / movement / vibration / lights / bubbles /
- slapstick comedy!
- Happy disposition; some can be charming / persuasive / determined
- Lovely faces / healthy skin / lustrous hair!
GRIN gene family
GRIN2A
The impact of GRIN2A can vary greatly among individuals, with some experiencing severe symptoms and others having milder effects. Treatment often focuses on managing symptoms, especially seizures, through medication and supportive therapies. Since GRIN2A-related disorders can significantly affect communication and cognitive development, speech therapy and special educational support are also
GRIN2B
Pathogenic changes in the GRIN2B gene have been associated with several neurodevelopmental disorders, including intellectual disability, epilepsy, autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD). These conditions can range in severity, affecting cognitive, motor, and social development to varying degrees. The symptoms and their intensity can vary widely
GRIN2C
Pathogenic changes in the GRIN2C gene can lead to various neurological and psychiatric conditions, although they are less commonly reported than variants in some of the other NMDA receptor subunit genes, like GRIN2A and GRIN2B. The conditions associated with GRIN2C variants might include developmental delay, intellectual disability, epilepsy, and potentially
GRIN2D
Changes in the GRIN2D gene have been less frequently reported in comparison to variants in other NMDA receptor subunit genes but can be associated with various neurological disorders. These might include developmental delays, intellectual disability, epilepsy, and other conditions affecting the nervous system. The specific role of GRIN2D variants in