Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.

Anastasia Neklyudova, Katerina Lind, Galina Portnova, Ksenia Golovina, Maria I Mitina, Andrey D Manakhov, Olga Sysoeva

Abstract readCase Reports

In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Anastasia NeklyudovaLaboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia.

Katerina LindInstitute of Physics and Technology, Ural Federal University, Yekaterinburg 620062, Russia.ORCID 0009-0004-8447-0452

Galina PortnovaLaboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia.

Ksenia GolovinaCenter for Cognitive Science, Sirius University of Science and Technology, Sirius 354340, Russia.ORCID 0000-0002-0505-9883

Maria I MitinaDivision of Genetics, Sirius University of Science and Technology, Sirius 354340, Russia.

Andrey D ManakhovDivision of Genetics, Sirius University of Science and Technology, Sirius 354340, Russia.

Olga SysoevaLaboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow 117485, Russia.ORCID 0000-0002-4005-9512

Funding

Supported by the Ministry of Science and Higher Education of the Russian Federation 075-10-2025-017

6 · The paper itself

Abstract

We present a family case study of Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by haploinsufficiency of the

Indexed as

Chromosome DisordersNerve Tissue ProteinsAdolescentChildChromosome DeletionChromosomes, Human, Pair 22Evoked Potentials, AuditoryFemaleHumansMalePedigreeNerve Tissue ProteinsSHANK3 protein, humanauditory steady-state responsebiomarkersEEGPhelan–McDermid syndromeSHANK3 gene

Identifiers

PMID41683985

DOI10.3390/ijms27031567

PMCPMC12898290

What Socratic holds

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LicenceCC BY

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