Living with Developmental and epileptic encephalopathy, 35
A rare genetic condition starting in infancy with seizures, a small head, severe developmental delay, and feeding difficulties.
Understanding Developmental and epileptic encephalopathy, 35
It includes a head that grows slowly (progressive microcephaly), severe developmental delay, seizures, low muscle tone, feeding difficulties, and cataracts. Some people have heart differences. Brain MRI shows a distinct pattern with delayed myelination and progressive loss of brain tissue. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Global developmental delay
- Small head size (microcephaly)
- Feeding difficulties
- Cataracts
- Low muscle tone
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 ITPA 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); 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 ITPA gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dee35; developmental and epileptic encephalopathy 35; eiee35; epileptic encephalopathy, early infantile, 35; epileptic encephalopathy, early infantile, type 35; inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement
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, 35.
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