{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T14:02:04Z","timestamp":1792245724562,"version":"4.4.0"},"reference-count":59,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"crossref","award":["075-10-2025-017"],"award-info":[{"award-number":["075-10-2025-017"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We present a family case study of Phelan\u2013McDermid syndrome (PMS), a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene, in which two of three siblings were clinically diagnosed with PMS. Sanger sequencing identified a novel heterozygous deletion in exon 20 of SHANK3 (c.3679del, p.Ala1227Profs*168), predicted to introduce a premature stop codon and truncate the protein; this variant was absent in the unaffected sibling. Auditory steady-state responses (ASSRs) were recorded at 16, 27, and 40 Hz. The 40 Hz ASSR was markedly reduced in both affected siblings, reaching statistical significance in the younger child and remaining non-significant in the older sibling, while it was preserved in the unaffected sibling. These findings suggest that the 40 Hz ASSR is particularly sensitive to SHANK3-related cortical inhibitory dysfunction during childhood and adolescence, with reduced sensitivity in early adulthood. The results highlight the potential of the 40 Hz ASSR as an electrophysiological biomarker in PMS and underscore the need for age-stratified normative control datasets to enable robust individual-level interpretation and support its use in biomarker development, clinical trial stratification, and monitoring of treatment response.<\/jats:p>","DOI":"10.3390\/ijms27031567","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T15:24:19Z","timestamp":1770305059000},"page":"1567","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan\u2013McDermid Syndrome Cases"],"prefix":"10.3390","volume":"27","author":[{"given":"Anastasia","family":"Neklyudova","sequence":"first","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8447-0452","authenticated-orcid":false,"given":"Katerina","family":"Lind","sequence":"additional","affiliation":[{"name":"Institute of Physics and Technology, Ural Federal University, Yekaterinburg 620062, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Portnova","sequence":"additional","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0505-9883","authenticated-orcid":false,"given":"Ksenia","family":"Golovina","sequence":"additional","affiliation":[{"name":"Center for Cognitive Science, Sirius University of Science and Technology, Sirius 354340, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I.","family":"Mitina","sequence":"additional","affiliation":[{"name":"Division of Genetics, Sirius University of Science and Technology, Sirius 354340, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey D.","family":"Manakhov","sequence":"additional","affiliation":[{"name":"Division of Genetics, Sirius University of Science and Technology, Sirius 354340, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4005-9512","authenticated-orcid":false,"given":"Olga","family":"Sysoeva","sequence":"additional","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia"},{"name":"Center for Cognitive Science, Sirius University of Science and Technology, Sirius 354340, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000334260","article-title":"The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)","volume":"2","author":"Phelan","year":"2012","journal-title":"Mol. 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