Article

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

2020-11-30

Abstract excerpt

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...

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Literature Corpus work: 8c96da5e-7a01-5bc7-96b8-e1a13fa7dae5
DOI: 10.20944/preprints202011.0710.v1

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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 22q13.33DOI 10.20944/preprints202011.0710.v1Read

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