Details of Disease | DrugMAP

General Information of Disease (ID: DIS8U111)

Disease Name	Neonatal-onset encephalopathy with rigidity and seizures
Synonyms	RMFSL; rigidity and multifocal seizure syndrome, lethal neonatal; lethal neonatal rigidity-multifocal seizure syndrome; lethal neonatal spasticity-epileptic encephalopathy syndrome; neonatal-onset encephalopathy with rigidity and seizures
Disease Hierarchy	DIS80GDF: Monogenic epilepsy DISZOCA3: Epileptic encephalopathy DIS8U111: Neonatal-onset encephalopathy with rigidity and seizures
Disease Identifiers	MONDO ID MONDO_0013784 UMLS CUI C3281029 OMIM ID 614498 MedGen ID 482659 Orphanet ID 435845 SNOMED CT ID 1197587003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRAP	OTB7BAFQ	Strong	Genetic Variation	[1]
BRAT1	OT5ABVYX	Definitive	Autosomal recessive	[2]
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References

1	Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.