neonatal encephalopathy with non-epileptic myoclonus
Findings
No curated finding names neonatal encephalopathy with non-epileptic myoclonus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0100456), 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
Where it sits
- A kind of