Living with Developmental and epileptic encephalopathy, 12
An extremely rare nervous system condition with very frequent seizures that start in the first days to months of life.
Understanding Developmental and epileptic encephalopathy, 12
Seizures start within the first days to months of life. They may cause eye rolling, eyelid fluttering, lip smacking, drooling, bluish color around the mouth, limpness, or stiffening of the back, legs, and arms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Frequent seizures
- Epileptic spasms
- Tonic-clonic and tonic seizures
- Muscle stiffness (spasticity)
- Loss of developmental milestones
- Low muscle tone in the trunk
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 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 PLCB1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dee12; developmental and epileptic encephalopathy 12; early infantile epileptic encephalopathy 12; early infantile epileptic encephalopathy caused by mutation in plcb1; eiee12; epileptic encephalopathy, early infantile, 12
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, 12.
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