GRIN2D SYMPTOMS
While the full extent of symptoms has likely not yet been identified, and their severity will vary widely individuals with GRIN2D variants experience a spectrum of neuro-developmental disorders including:
- Epilepsy is very common. Different types of seizures are experienced including infantile-onset epilepsy, usually before 6 months of age; Absence seizures; Focal impaired awareness seizures (seizures where children stop their usual behaviour and become unaware); Focal motor seizures (jerking or movements of one part of the body); Generalised tonic-clonic seizures, also called grand mal seizures (in which the body, arms and legs extend, then contract and shake); many are often difficult to control with anti-seizure medications.
- Developmental delays and including achieving developmental milestones during infancy or early childhood; Cognitive impairment ranging from moderate to severe.
- Movement disorders, including dystonia and chorea
- Decreased muscle tone (hypotonia) centrally (in their “core”)
- Increased muscle tone (spasticity) peripherally (in the limbs)
- Cortical visual impairment
- Feeding difficulties
- Small head size (microcephaly)
GRIN gene family
GRIN1
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
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