Living with Developmental and epileptic encephalopathy, 54
A neurological condition linked to the HNRNPU gene, with hard-to-treat seizures and developmental delay.
Understanding Developmental and epileptic encephalopathy, 54
Seizures are often related to fevers at first, then occur without fever. Children have delayed development and intellectual disability. Many have low muscle tone and delayed or absent speech, and may have trouble with daily tasks like feeding. 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:
- Several seizure types
- Global developmental delay
- Intellectual disability
- Loss of developmental skills
- Muscle jerks (myoclonus)
- Prolonged seizures (status epilepticus)
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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 HNRNP Family 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 HNRNPU 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: dee54; developmental and epileptic encephalopathy 54; eiee54; epileptic encephalopathy, early infantile, 54; hnrnpu-related disorder
Patient organizations
- HNRNP Family FoundationDevelopmental and epileptic encephalopathy, 54 · United States
- Simons SearchlightDevelopmental and epileptic encephalopathy, 54 · United States
- Epilepsy FoundationEpilepsy · United States
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