ArticleAnnals of clinical and translational neurology2018
Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.PCN reports : psychiatry and clinical neurosciences · 2025Article
- Women With Genetic Epilepsies.Neurology. Genetics · 2025Review
- Prenatal assessment of brain malformations on neuroimaging: an expert panel review.Brain : a journal of neurology · 2024Review
- Case report: Periventricular heterotopia and early-onset bipolar disorder in adolescent patient with history of childhood attention deficit hyperactivity disorder.Frontiers in psychiatry · 2024Article
- Human cerebral organoids - a new tool for clinical neurology research.Nature reviews. Neurology · 2022Review
- Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.Experimental and therapeutic medicine · 2022Article
- Heterotopia in Individuals with 22q11.2 Deletion Syndrome.AJNR. American journal of neuroradiology · 2021Article
- Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.Journal of medical case reports · 2021Review
- Implications of Extended Inhibitory Neuron Development.International journal of molecular sciences · 2021Review
- Grey Matter Heterotopia and Criminal Responsibility in a Case of Personal Injury Defense.Frontiers in psychiatry · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH.
methodsWe retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2DS. We included only those with good quality MRI data (
resultsOf the total seven patients (M = 4, F = 3; age: 19-61 years) identified to have PNH, six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obsessive compulsive disorder. In all seven patients, the nodules were located over the dorsal pole of the frontal horn of the lateral ventricles. The nodules were small, noncontiguous, and ranged in number from 1 to 10 per individual. Our review identified 37 genetic conditions associated with PNH. With the cases reported here, 22q11.2DS becomes the fifth most commonly reported genetic condition, and the third most common copy number variation, associated with PNH.
interpretationThe neuropsychiatric manifestations in our patients with PNH support other data indicating abnormal neurodevelopment as part of the pathogenesis of 22q11.2DS.The location and cellular characteristics of PNH in 22q11.2DS overlaps with a group of migrating postnatal interneurons termed Arc cells, although more research is needed to confirm that PNH in 22q11.2DS represents Arc cells arrested in their migratory pathway.
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Registered trials
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