Living with Developmental and epileptic encephalopathy, 73
A rare genetic condition with a small head from birth, seizures that start in infancy, and profound developmental delay.
Understanding Developmental and epileptic encephalopathy, 73
Other reported features include vision loss caused by the brain, hearing loss, increased muscle tone, joint contractures, and scoliosis. Facial features include a small chin and narrow forehead. Brain imaging may show a thin corpus callosum and delayed myelination. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures starting in infancy
- Small head size (microcephaly)
- Vision problems caused by the brain
- Feeding difficulties
- Joints that cannot be straightened (contractures)
- Poor weight gain
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, ear, nose, and throat specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in RNF13 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); 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 Epilepsy Foundation
- 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 RNF13 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dee73; developmental and epileptic encephalopathy 73; epileptic encephalopathy, early infantile, 73; ring finger protein 13-related severe early-onset epileptic encephalopathy; rnf13-related severe early-onset epileptic encephalopathy; rnf13-related severe eoee
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 73.
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