Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
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DOI: 10.1093/brain/awac049
Abstract: Abstract RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental disorder. Some of these variants have previously been shown to… read more here.
Keywords: rac1 variants; switch region; rac1; developmental syndrome ... See more keywords
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
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DOI: 10.1093/brain/awy092
Abstract: Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal homeostasis,… read more here.
Keywords: mutations atp6v1a; developmental encephalopathy; novo mutations; atp6v1a gene ... See more keywords