ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Neurological manifestation of 22q11.2 deletion syndrome.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- 22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports.Children (Basel, Switzerland) · 2026Article
- Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls.Frontiers in neurology · 2026Article
- Genetics and Phenotypes of Late-Onset Neurodegeneration in Neurodevelopmental Disorders.Cureus · 2025Review
- Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.Journal of clinical laboratory analysis · 2025Review
- Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.Current genomics · 2025Review
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Review
- Severe Pediatric Dystonia Responding to Deep Brain Stimulation in 22q11.2 Microduplication Syndrome: Rare Clinical Presentation.Movement disorders clinical practice · 2024Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.Communications biology · 2023Article
- [Juvenile Parkinson's disease and 22q11.2 microdeletion syndrome].Der Nervenarzt · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Modeling the enigma of complex disease etiology.Journal of translational medicine · 2023Article
- Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.International journal of molecular sciences · 2023Review
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Article
- Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.Brain sciences · 2022Article
- Clinical management of psychosis in 22q11.2 deletion syndrome.Journal of psychiatry & neuroscience : JPNArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.2 deletion syndrome. The syndrome is associated with neurological disorders such as epilepsy and movement disorders. Patients with 22q11.2 DS have an increased incidence of provoked and unprovoked seizures. Provoked seizures include, amongst others, seizures due to hypocalcemia, surgery, perioperative hypoxia, antipsychotic medication, and fever. Both focal seizures, myoclonus and generalized tonic-clonic seizures occur in 22q11.2 DS. Generalized epilepsy occurs more often than in the background population. Furthermore, 22q11.2 DS is associated with a significantly increased risk of developing Parkinson's disease, and an increased incidence of dystonia has also been suggested. Abnormal neuroradiological findings - amongst them polymicrogyria - are common in 22q11.2.2 DS and reviewed in the article. The risk of psychiatric disorders, in particular schizophrenia, is increased in 22q11.2 DS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.