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 crucial.
The research on GRIN2A and its implications is ongoing, aiming to better understand the gene’s role in neurological development and to develop more effective treatments for associated conditions.

GRIN2A SYMPTOMS

Some of the most common symptoms and features reported across literature and research, about symptoms experienced by those with GRIN2A include:

  • Seizures: which often begin in early childhood, but ranges from shortly after birth to later in childhood. Some people never develop epilepsy. Epilepsy types include focal epilepsies, epileptic encephalopathies such as Landau-Kleffner Syndrome (LKS) and Continuous Spike and Wave During Sleep (CSWS); childhood epilepsy with centrotemporal spikes (CECTS). Seizure types can include focal seizures, generalised seizures (Atonic seizures, Atypical absence seizures, Myoclonic seizures Generalised tonic-clonic seizures). Some children with GRIN2A-related disorders may develop different types of seizures, which may be difficult to control with anti-seizure medications.

  • Speech difficulties which fall along a spectrum of severity, including speech delay; impairment in conversational speech and language, such as atypical intonation or speech articulation errors; dysarthria and speech apraxia; delays and regression in speech and language development.

  • While some individuals will have neuro-typical development and intellect, others will have a degree of developmental delay and cognitive impairment ranging from mild to severe, including delays in achieving developmental milestones during infancy or early childhood, particularly in speech and language domains.

  • Muscular hypotonia (decreased muscle tone)

  • Movement disorders, including ataxia, dystonia or chorea

  • Behaviour disorders, including aggression, hyperactivity (Attention deficit hyperactivity disorder (ADHD)) or features of autism spectrum disorder

  • Sleep difficulties

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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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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