40-Hz Auditory Steady State Response (ASSR) as a Biomarker of Abnormalities in SHANK3 Gene: a Case-Report of 15-years Old Girl with Rare Microduplication in 22q13.33
Abstract:SHANK3 encodes scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+inhibitory neurons – the key players in generation of sensory gamma oscillations, such as 40-Hz auditory steady-state response(ASSR). Here we describe a clinical and neurophysiological phenotype of a 15-years old girl (SH01) with microduplication of 16389 bp in 22q13.33, affecting the SHANK3 gene in comparison to typically developing children (n=32). EEG were re… Show more
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