Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
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
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E et al.
Neurology, 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
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T et al.
Epilepsia, 2020
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
Oatts JT et al.
Ophthalmic Genetics, 2017
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
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