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Periventricular Nodular Heterotopia

A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Also Known As:
Bilateral Periventricular Nodular Heterotopia; Familial Nodular Heterotopia; Heterotopia, Familial Nodular; Heterotopia, Periventricular, X-Linked Dominant; Nodular Heterotopia, Bilateral Periventricular; Periventricular Heterotopia; Periventricular Heterotopia, X-Linked; Periventricular Nodular Heterotopia 1; Familial Nodular Heterotopias; Heterotopia, Periventricular; Heterotopia, Periventricular Nodular; Heterotopia, X-Linked Periventricular; Nodular Heterotopia, Familial; Nodular Heterotopia, Periventricular; Periventricular Heterotopia, X Linked; Periventricular Heterotopias; Periventricular Nodular Heterotopias; X-Linked Periventricular Heterotopia; X-Linked Periventricular Heterotopias
Networked: 130 relevant articles (1 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Epilepsy (Aura)
2. Hypothalamic hamartomas
3. Malformations of Cortical Development
4. Cerebral Cortical Thinning
5. Seizures (Absence Seizure)

Experts

1. Guerrini, Renzo: 8 articles (01/2022 - 12/2002)
2. Sheen, Volney L: 8 articles (01/2015 - 11/2002)
3. Robertson, Stephen P: 7 articles (01/2022 - 08/2012)
4. Walsh, Christopher A: 6 articles (01/2018 - 11/2002)
5. Battaglia, Giorgio: 6 articles (09/2006 - 01/2002)
6. Leventer, Richard J: 5 articles (01/2018 - 05/2013)
7. Bassanini, Stefania: 5 articles (09/2006 - 06/2003)
8. Lian, Gewei: 4 articles (01/2015 - 02/2009)
9. Di Luca, Monica: 4 articles (09/2006 - 01/2002)
10. Guerrini, R: 4 articles (07/2006 - 03/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Periventricular Nodular Heterotopia:
1. Thyroid HormonesIBA
2. FilaminsIBA
3. Cadherins (E-Cadherin)IBA
07/01/2023 - "The data indicate that Foxp4 is essential for N-cadherin-based adherens junctions, the loss of which leads to periventricular heterotopias. "
05/01/2017 - "In IVH cases, normal VZ/SVZ areas were mixed with foci of NSC and EC loss, eruption of cells into the ventricle, cytoplasmic transposition of N-cadherin, subependymal rosettes, and periventricular heterotopia. "
01/01/2019 - "Here we study periventricular heterotopia (PH) by analyzing cerebral organoids derived from induced pluripotent stem cells (iPSCs) of patients with mutations in the cadherin receptor-ligand pair DCHS1 and FAT4 or from isogenic knockout (KO) lines1,3. Our results show that human cerebral organoids reproduce the cortical heterotopia associated with PH. Mutations in DCHS1 and FAT4 or knockdown of their expression causes changes in the morphology of neural progenitor cells and result in defective neuronal migration dynamics only in a subset of neurons. "
07/01/2015 - "Our results suggest that abnormal expression of the intercellular junction proteins N-cadherin and connexin-43 in NSC leads to 1) disruption of the ventricular and subventricular zones, loss of NSCs and neural progenitor cells; and 2) abnormalities in neurogenesis such as periventricular heterotopias and abnormal neuroblast migration. "
11/01/2020 - "Biallelic variants in the transmembrane O-mannosyltransferase targeting cadherins 3 (TMTC3) gene have been reported to cause two distinct types of neuron migration defect diseases, known as cobblestone lissencephaly (COB) and periventricular nodular heterotopia (PVNH), combined with intellectual disability and nocturnal seizures. "
4. microtubule-associated protein 1B (MAP5)IBA
5. Methylazoxymethanol AcetateIBA
6. Carmustine (FIVB)FDA Link
01/01/2013 - "The VZ of BCNU-treated rats appeared disorganized since E18 and at E21 the embryos showed an altered migratory pattern: migration of superficial layers appeared delayed, with a number of migrating cells in the intermediate zone and some neurons destined to superficial layers arrested in the VZ, thus forming periventricular heterotopia. "
03/17/2009 - "The main results of the present study are (i) the analysis of cortical layer thickness revealed that the cortical thinning in the BCNU model was prevalently restricted to the superficial layers; (ii) in cortical and periventricular heterotopia, the prevalent presence of superficial layer neurons in the internal areas, and deeper layer neurons in a more peripheral region, demonstrated a rudimentary pattern of laminar organization in nodule formation; and (iii) the Er81 signal in the dysmorphic and heterotopic pyramidal neurons located in layers I/II showed that they belong to layer V. These results shed light on the disorganization of the laminar architecture of the BCNU model by providing correlations with normal cortical layering and revealing the ontogenesis of heterotopia and heterotopic/dysmorphic neurons. "
01/01/2013 - "BCNU is an alkylating agent that, administered at embryonic day 15 (E15), causes the loss of many cells destined to cortical layers; this results in cortical thinning but also in histological alterations imputable to migration defects, such as laminar disorganization and cortical and periventricular heterotopia. "
7. KinesinsIBA
8. PesticidesIBA
9. LigandsIBA
10. Carrier Proteins (Binding Protein)IBA

Therapies and Procedures

1. Craniotomy
2. Electrodes (Electrode)
3. Laser Therapy (Surgery, Laser)
4. Therapeutics
5. Lasers (Laser)