Living with Developmental and epileptic encephalopathy, 46
A neurological condition linked to the GRIN2D gene, with hard-to-treat seizures and developmental delay.
Understanding Developmental and epileptic encephalopathy, 46
It can also cause global developmental delay and poor growth, low muscle tone, strong reflexes, and intellectual disability. Some children have more severe impairments and may not be able to sit or speak. Others reach some milestones. Most cases first appear in a family as a new (de novo) change.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hard-to-treat seizures
- Poor growth and weight gain
- Feeding difficulties
- Small head size (microcephaly)
- Vision problems caused by the brain
- Drooling
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 seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
GRIN2B Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- 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
Changes in the GRIN2D gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough. Most cases first appear as a new change in a family.
Also known as: dee46; developmental and epileptic encephalopathy 46; early infantile epileptic encephalopathy caused by mutation in grin2d; eiee46; epileptic encephalopathy, early infantile, 46; epileptic encephalopathy, early infantile, 46
Patient organizations
- GRIN2B FoundationDevelopmental and epileptic encephalopathy, 46 · United States
- CureGRINDevelopmental and epileptic encephalopathy, 46 · United States
- CureGRIN FoundationDevelopmental and epileptic encephalopathy, 46 · United States
- Simons SearchlightDevelopmental and epileptic encephalopathy, 46 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 46.
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