Yazar "Coatti, Giuliana C." için listeleme

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

Ahn, Lucie Y.; Coatti, Giuliana C.; Liu, Jingyi; Gümüş, Evren; Schaffer, Ashleigh E.; Miranda, Helen C. (Wiley, 2020;00:1–)

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 ...