Associated Papers
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
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
An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Colak FK et al.
Acta Neurologica Belgica, 2020
Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1.
Celik Y et al.
Epilepsy & Behavior Case Reports, 2017
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