developmental and epileptic encephalopathy, 7
Findings
No curated finding names developmental and epileptic encephalopathy, 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0013387), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNQ2HGNC:6296
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: developmental and epileptic encephalopathy, 7
- Also called
- DEE7developmental and epileptic encephalopathy 7EIEE7epileptic encephalopathy, early infantile, 7epileptic encephalopathy, early infantile, type 7KCNQ2-NEE