Associated Papers
BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report.
Qin DY et al.
Frontiers in Pediatrics, 2026
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C et al.
European Journal of Human Genetics : Ejhg, 2023
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S et al.
Human Mutation, 2022
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Qi Y et al.
Frontiers in Genetics, 2022
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Fowkes R et al.
Epilepsy & Behavior Reports, 2022
An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Colak FK et al.
Acta Neurologica Belgica, 2020
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Van Ommeren RH et al.
Journal of Neuropathology and Experimental Neurology, 2018
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