23. Biomarker Discovery in ASD: Visual Evoked Potentials as a Biomarker of Phelan-McDermid Syndrome

      Excitatory/inhibitory imbalance represents one promising mechanistic hypothesis for autism spectrum disorder (ASD). Impairments in excitatory (glutamatergic) and inhibitory (GABAergic) neurotransmission can be measured through electrophysiology (EEG) and targeted through pharmacological intervention. Visual evoked potentials (VEPs) reflect the sum of excitatory and inhibitory postsynaptic activity. Applying a genetics-first approach allows us to examine single-locus causes of ASD, such as Phelan-McDermid syndrome (PMS), where genetic alterations are known to directly impact glutamatergic circuitry.
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