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Article

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.

Journal of neuroscience research - 1 Jan 2021

Ahn Lucie Y, Coatti Giuliana C, Liu Jingyi, Gumus Evren, Schaffer Ashleigh E, Miranda Helen C

Abstract excerpt

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 in patients diagnosed with early infantile epileptic encephalopathy, subtype 76 (EIEE-76), presenting with severe, global developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal central...

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Source

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Identifiers

PMID: 33141462
DOI: 10.1002/jnr.24747
PMCID: PMC7756336

Genes

ACTL6B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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