Associated Papers
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
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
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Pourahmadiyan A et al.
The International Journal of Neuroscience, 2021
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
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Smith NJ et al.
American Journal of Medical Genetics. Part A, 2016
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2016
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Horn D et al.
American Journal of Medical Genetics. Part A, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
Fernández-Jaén A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
Hanes I et al.
Pediatric Neurology, 2015
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu H et al.
Journal of Human Genetics, 2014