ArticleCureus2021
A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome.
Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Clinical characteristics of BRAT1-related disease: a systematic literature review.Acta neurologica Belgica · 2024Pooled it
- Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.European journal of human genetics : EJHG · 2023Article
- Clinical and Neurophysiologic Phenotypes in Neonates WithNeurology · 2023Article
- Article
- Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.Molecular genetics & genomic medicine · 2023Article
- A review of the clinical spectrum ofEpilepsy & behavior reports · 2022Article
- Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a case of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) in an early-term female infant born to non-consanguineous parents. RMFSL is a recently discovered autosomal recessive disease caused by the BRAT1 gene mutations. The BRAT1 gene encodes the BRCA1-associated protein required for ATM activation-1, a protein that interacts with BRCA1 and ATM to initiate DNA repair in response to DNA damage. The exon sequence revealed biallelic deletions of exon 1-2 of the BRAT1 gene in our patient. There are only a few cases of RMFSL reported in the literature, and all of them have died before two years, mostly in the first six months of life. Our patient died at the age of 74 days.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.