An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model
https://pubmed.ncbi.nlm.nih.gov/33141462/ J Neurosci Res. 2021 Jan;99(1):110-123. doi: 10.1002/jnr.24747. Epub 2020 Nov 3. Lucie Y Ahn 1 2, Giuliana C Coatti 1, Jingyi Liu 3, Evren Gumus 4 5, Ashleigh E Schaffer 1 6, Helen C Miranda 1 7Affiliations expand PMID: 33141462 PMCID: PMC7756336 DOI: 10.1002/jnr.24747 Abstract ACTL6B is a component of the neuronal BRG1/brm-associated factor (nBAF) complex, which is required for chromatin remodeling in postmitotic neurons. We recently reported biallelic pathogenic variants in ACTL6B …