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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.
Rowland ME et al.
Frontiers in Molecular Neuroscience, 2022
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
Yüksel Z et al.
American Journal of Medical Genetics. Part A, 2019
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
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M et al.
Human Genetics, 2019
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