neonatal-onset developmental and epileptic encephalopathy
Findings
No curated finding names neonatal-onset developmental and epileptic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.
Definition from the Mondo Disease Ontology (MONDO:0100455), read 2026-09-29. CC BY 4.0.
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 · ClinGen · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (20)
- developmental and epileptic encephalopathy, 12
- developmental and epileptic encephalopathy, 13
- developmental and epileptic encephalopathy, 16
- developmental and epileptic encephalopathy, 21
- developmental and epileptic encephalopathy, 24
- developmental and epileptic encephalopathy, 25
- developmental and epileptic encephalopathy, 26
- developmental and epileptic encephalopathy, 28
- developmental and epileptic encephalopathy, 29
- developmental and epileptic encephalopathy, 31A
- developmental and epileptic encephalopathy, 32
- developmental and epileptic encephalopathy, 33
- developmental and epileptic encephalopathy, 34
- developmental and epileptic encephalopathy, 39
- developmental and epileptic encephalopathy, 41
- developmental and epileptic encephalopathy, 42