Associated Papers
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature.
Han X et al.
Children (basel, Switzerland), 2022
Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.
Rowland ME et al.
Frontiers in Molecular Neuroscience, 2022
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Wenderski W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S et al.
American Journal of Human Genetics, 2019
Select a paper to view details