Associated Papers
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Paucar M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
39831730 (PubMed )
Supplement: MDS-40-672-s006.pdf
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Suh YA et al.
Frontiers in Pediatrics, 2024
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S et al.
European Journal of Human Genetics : Ejhg, 2021
Schimke XLID syndrome results from a deletion in BCAP31.
Louie RJ et al.
American Journal of Medical Genetics. Part A, 2020
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
Shimizu K et al.
Molecular Genetics & Genomic Medicine, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
Albanyan S et al.
American Journal of Medical Genetics. Part A, 2017
Select a paper to view details