Associated Papers
BRAT1 Mutation - A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype.
Kamate M et al.
Annals of Indian Academy of Neurology, 2025
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Qi Y et al.
Frontiers in Genetics, 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
Clinico-pathological correlation in case of BRAT1 mutation.
Szymańska K et al.
Folia Neuropathologica, 2018
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