Living with Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
A rare genetic condition with seizures, developmental delay, and intellectual disability linked to the GRIN2A gene.
Understanding Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
People have global developmental delay and intellectual disability that ranges from mild to profound. They have several types of seizures, which are often hard to control. Brain scans may show gradual loss of brain volume and a thin corpus callosum (the tissue joining the two halves of the brain). It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe delays in overall development
- Severe intellectual disability
- Grand mal (tonic-clonic) seizures
- Low muscle tone in infancy
- Poor head control
- Learning disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in GRIN2A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
GRIN2B Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: GRIN2B Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with GRIN2B Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the GRIN2A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: epilepsy, focal, with speech disorder and with or without impaired intellectual development; glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a developmental and epileptic encephalopathy; grin2a developmental and epileptic encephalopathy; grin2a-dee - grin2a developmental and epileptic encephalopathy
Patient organizations
- GRIN2B FoundationEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation · United States
- CureGRINEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation · United States
- CureGRIN FoundationEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation · United States
- Simons SearchlightEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation.
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