Living with Developmental and epileptic encephalopathy, 7
A group of KCNQ2-related seizure conditions that start in the first four weeks of life, ranging from milder to more severe.
Understanding Developmental and epileptic encephalopathy, 7
The group ranges from a milder form (benign familial neonatal epilepsy) to a more severe form (KCNQ2-related epileptic encephalopathy). In the milder form, seizures start in otherwise healthy infants around day 3 and usually go away within 1 to 4 months.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that affect development (epileptic encephalopathy)
- Epileptic spasms
- Intellectual disability
- Pauses in breathing (apnea)
- Muscle tensing (dystonia)
- Flushed cheeks
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 KCNQ2 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
KCNT1 Epilepsy Foundation and 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: KCNT1 Epilepsy Foundation, 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 KCNT1 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 KCNQ2 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dee7; developmental and epileptic encephalopathy 7; early infantile epileptic encephalopathy 7; eiee7; epileptic encephalopathy, early infantile, 7; epileptic encephalopathy, early infantile, type 7
Patient organizations
- KCNT1 Epilepsy FoundationDevelopmental and epileptic encephalopathy, 7 · United States
- KCNQ2 Cure AllianceDevelopmental and epileptic encephalopathy, 7 · United States
- Epilepsy FoundationEpilepsy · United States
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