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neonatal-onset encephalopathy with rigidity and seizures - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal-onset encephalopathy with rigidity and seizures

MONDO:0013784

Also known as:lethal neonatal rigidity-multifocal seizure syndromelethal neonatal spasticity-epileptic encephalopathy syndromeRMFSL

Overview

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.

GeneticsAutosomal recessive · BRAT1 (chr 7)

OnsetANTENATAL, NEONATAL, CONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypothermia, Muscle stiffness (rigidity), Bradycardia, and Global developmental delay and others; and very common findings: Apnea. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Clonus, Generalized myoclonic seizure, Muscle stiffness (rigidity)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BRAT1 encodes BRCA1 associated ATM activator 1 (821 aa). Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex. Highest expression in Testis (94.6 TPM) and Cervix Endocervix (75.8 TPM).

Neonatal-onset encephalopathy with rigidity and seizures is caused by mutations in the BRAT1 gene on chromosome 7.

BRAT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for BRAT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 1 very common feature, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal-onset encephalopathy with rigidity and seizures.

19 publications have been identified in PubMed for neonatal-onset encephalopathy with rigidity and seizures. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (21%), and Case Report / Case Series (21%).

Research Type	Count	% of Total
Laboratory research	8	42%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614498

Orphanet

European rare disease database

Orphanet:435845

GARD

Genetic and Rare Diseases Info Center

GARD:17718

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

neonatal-onset encephalopathy with rigidity and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neonatal-onset encephalopathy with rigidity and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications