Living with Developmental and epileptic encephalopathy, 39
A rare condition with seizures, very low muscle tone, and developmental delay that starts in the first year of life.
Understanding Developmental and epileptic encephalopathy, 39
People have very low muscle tone, seizures beginning in the first year of life, and stalled motor development. Some have pauses in breathing (apnea) with seizures. Severe muscle stiffness with strong reflexes has also been reported. Brain imaging shows low myelin throughout the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very low muscle tone
- Seizures
- Pauses in breathing (apnea)
- Absent speech
- Delayed rolling over and walking
- 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 brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC25A12 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 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 SLC25A12 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: agc1 deficiency; dee39; developmental and epileptic encephalopathy 39; developmental and epileptic encephalopathy 39 with leukodystrophy; early infantile epileptic encephalopathy caused by mutation in slc25a12; eiee39
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 39.
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