Ontology highlight
ABSTRACT:
SUBMITTER: Ahn LY
PROVIDER: S-EPMC7756336 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Ahn Lucie Y LY Coatti Giuliana C GC Liu Jingyi J Gumus Evren E Schaffer Ashleigh E AE Miranda Helen C HC
Journal of neuroscience research 20201103 1
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 nervous system myelination. However, the pathophysiological mechanisms underlying t ...[more]