Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
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DOI: 10.1016/j.ajhg.2019.03.022
Abstract: We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten… read more here.
Keywords: human neurons; actl6b cause; loss; allelic mutations ... See more keywords