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 other neuropsychiatric disorders. Research on GRIN2C and its implications in neurological conditions is ongoing, aiming to better understand the gene’s role in the nervous system and its potential as a target for therapeutic interventions.

GRIN2C SYMPTOMS

Due to the limited number of diagnosed patients with pathogenic GRIN2C variants, a comprehensive understanding of all associated symptoms remains unclear.

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

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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

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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

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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

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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

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