Associated Papers
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
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
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
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
BRAT1-related disease--identification of a patient without early lethality.
Mundy SA et al.
American Journal of Medical Genetics. Part A, 2016
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
Straussberg R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015