Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

doi:10.1016/j.ejmg.2016.08.003

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

European journal of medical genetics - 1 Sept 2016

Breckpot Jeroen, Vercruyssen Marieke, Weyts Eddy, Vandevoort Sean, D'Haenens Greet, Van Buggenhout Griet, Leempoels Lore, Brischoux-Boucher Elise, Van Maldergem Lionel, Renieri Alessandra, Mencarelli Maria Antonietta, D'Angelo Carla, Mericq Veronica, Hoffer Mariette J, Tauber Maithé, Molinas Catherine, Castiglioni Claudia, Brison Nathalie, Vermeesch Joris R, Danckaerts Marina, Sienaert Pascal, Devriendt Koenraad, Vogels Annick

Abstract excerpt

BACKGROUND: Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), known to predispose to neurodevelopmental disorders, may play a role in the etiology of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to Chromosomes, Human, Pair 14

Share to Chromosomes, Human, Pair 22

Share to DNA Copy Number Variations

Share to Haploinsufficiency

Share to Intellectual Disability

Share to Nerve Tissue Proteins

Source

Open in PubMed

Identifiers

PMID: 27519580
DOI: 10.1016/j.ejmg.2016.08.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.PMID 27519580Read ↗

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.Semantic proximity Read ↗

Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis.Semantic proximity Read ↗

Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.Semantic proximity Read ↗

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.Semantic proximity Read ↗

Copy Number Variant Duplications Associated with Essential TremorSemantic proximity Read ↗

Copy Number Variations and Schizophrenia.Semantic proximity Read ↗

Molecular hypotheses to explain the shared pathways and underlying pathobiological causes in catatonia and in catatonic presentations in neuropsychiatric disorders.Semantic proximity Read ↗

Copy number variation in schizophrenia.Semantic proximity Read ↗

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.Semantic proximity Read ↗

Novel copy-number variants in a population-based investigation of classic heterotaxy.Semantic proximity Read ↗

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.Semantic proximity Read ↗

Copy Number Variant Duplications Associated with Essential Tremor.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.