Associated Papers
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
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
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 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
Clinical detection of deletion structural variants in whole-genome sequences.
Noll AC et al.
Npj Genomic Medicine, 2016
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu H et al.
Journal of Human Genetics, 2014
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ et al.
Science Translational Medicine, 2012