Theneurological manifestations of phelan-mcdermid syndrome

Phelan-McDermid Syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. It is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autistic spectrum disorder (ASD), hypotonia and other motor abnormalities. In the brain, SHANK3 is expressed in neurons, especially in the synapse, and encodes a master scaffolding protein that forms a key framework in the postsynaptic density of glutamatergic synapses.

Source: Pediatric Neurology - June 15, 2021 Category: Neurology Authors: Yitzchak Frank Source Type: research