neonatal-onset encephalopathy with rigidity and seizures
Findings
No curated finding names neonatal-onset encephalopathy with rigidity and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013784), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
19 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.
- BradycardiaHPOHP:0001662
- 4 of 4 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 4 reported patients · Neonatal onset
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypothermiaHPOHP:0002045
- 4 of 4 reported patients
- Joint contractureHPOHP:0034392
- 2 of 2 reported patients
- Myoclonic spasmsHPOHP:0003739
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.
- BRAT1HGNC:21701
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: neonatal-onset encephalopathy with rigidity and seizures
- Also called
- lethal neonatal rigidity-multifocal seizure syndromelethal neonatal spasticity-epileptic encephalopathy syndrome