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Periventricular Nodular Heterotopia

Subscribe to New Research on 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; Heterotopia, Familial Nodular; Nodular Heterotopia, Bilateral Periventricular; Periventricular Heterotopia, X-Linked; Familial Nodular Heterotopia; Familial Nodular Heterotopias; Heterotopia, Periventricular Nodular; Heterotopia, X-Linked Periventricular; Heterotopias, Familial Nodular; Heterotopias, Periventricular Nodular; Heterotopias, X-Linked Periventricular; Nodular Heterotopia, Familial; Nodular Heterotopia, Periventricular; Nodular Heterotopias, Familial; Nodular Heterotopias, Periventricular; Periventricular Heterotopia, X Linked; Periventricular Heterotopias, X-Linked; Periventricular Nodular Heterotopias; X-Linked Periventricular Heterotopia; X-Linked Periventricular Heterotopias

Networked: 49 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Seizures (Seizure)
2.	Malformations of Cortical Development
3.	Epilepsy (Aura)
4.	Lissencephaly
5.	Classical Lissencephalies and Subcortical Band Heterotopias

Experts

1.	Battaglia, Giorgio: 6 articles (09/2006 - 01/2002)
2.	Bassanini, Stefania: 5 articles (09/2006 - 06/2003)
3.	Di Luca, Monica: 4 articles (09/2006 - 01/2002)
4.	Guerrini, R: 4 articles (07/2006 - 07/2000)
5.	Dobyns, W B: 4 articles (07/2006 - 07/2000)
6.	Pagliardini, Silvia: 4 articles (09/2003 - 01/2002)
7.	Setola, Veronica: 4 articles (09/2003 - 01/2002)
8.	Mancini, Grazia M S: 3 articles (01/2016 - 07/2010)
9.	Robertson, Stephen P: 3 articles (12/2015 - 05/2013)
10.	Guerrini, Renzo: 3 articles (08/2014 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Periventricular Nodular Heterotopia:

1.	Methylazoxymethanol AcetateIBA 04/01/2015 - "To study the excitability of aberrant nodules, we have examined c-fos activation in organotypic hippocampal slice cultures generated from an animal model of periventricular nodular heterotopia created by treating pregnant rats with methylazoxymethanol acetate. " 09/01/2003 - "The pre-natal administration of methylazoxymethanol acetate (MAM) in rats is able to induce cerebral heterotopia that share striking similarities with those observed in human periventricular nodular heterotopia, a cerebral dysgenesis frequently associated with drug-resistant focal seizures. " 07/01/2003 - "We have previously demonstrated that the antiproliferative agent methylazoxymethanol acetate (MAM) is able to induce in rats cerebral heterotopia that share striking similarities with those observed in human periventricular nodular heterotopia (PNH), a cerebral dysgenesis frequently observed in human patients affected by drug-resistant focal epilepsy. "
2.	filaminsIBA 12/01/2015 - "Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). " 01/01/2015 - "Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). " 11/01/2014 - "Due to the findings of periventricular nodular heterotopia, the diagnosis of a filamin A gene mutation was eventually made, which explained the respiratory pathology of this patient. " 01/01/2014 - "This report provides evidence for germline mosaicism in filamin A-associated periventricular nodular heterotopia. " 01/01/2014 - "X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. "
3.	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 01/01/2016 - "Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal hyperintensity and movement disorder. " 11/01/2013 - "Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. "
4.	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/01/2016 - "Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal hyperintensity and movement disorder. " 11/01/2013 - "Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. "
5.	N-Methylaspartate (NMDA)IBA 01/01/2002 - "AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia." 09/01/2006 - "Using a combined morphologic and molecular approach, we investigated the NMDA receptor and related protein composition in human epileptic patients affected by periventricular nodular heterotopia, subcortical band heterotopia, or focal cortical dysplasia. "
6.	DNA (Deoxyribonucleic Acid)IBA 08/21/2014 - "Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). " 09/01/2014 - "This detected a homozygous nonsense mutation in ARFGEF2 gene, at the DNA level c.388C>T in exon 4. The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation."
7.	Nonsense Codon (Nonsense Mutation)IBA 09/01/2014 - "This detected a homozygous nonsense mutation in ARFGEF2 gene, at the DNA level c.388C>T in exon 4. The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation."
8.	Tryptophan (L-Tryptophan)FDA Link 05/01/2008 - "Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy."
9.	Proteins (Proteins, Gene)IBA 07/01/2006 - "Mutations in the genes encoding these proteins in humans cause distinct neuronal migration disorders, including periventricular nodular heterotopia, subcortical band heterotopia and lissencephaly. "
10.	Deoxyglucose (2 Deoxy D glucose)IBA 01/01/1999 - "We analyzed the interictal [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FGD-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT) in two epileptic patients with periventricular nodular heterotopia (PNH). "

Therapies and Procedures

1.	Electrodes (Electrode) 12/01/1998 - "Seizure onset from periventricular nodular heterotopias: depth-electrode study." 01/01/2008 - "Our aim was to investigate relationships between heterotopic and remote cortical structures at seizure initiation, in a patient with bilateral periventricular nodular heterotopias (BPNH) explored by intracerebral electrodes. " 04/01/2005 - "The ictal EEG recordings with surface electrodes revealed common features in all patients: all seizures originated from the brain regions where the periventricular nodular heterotopia were located; EEG patterns recorded on the leads exploring the periventricular nodular heterotopia were very similar both at the onset and immediately after the seizure's end in all patients. " 12/01/1998 - "We evaluated three patients with intractable complex partial seizures and periventricular nodular heterotopias (PNHs) with video-EEG monitoring with multiple depth electrodes, including placement in the PNH, to determine whether seizures originate from the PNH. " 01/01/2014 - "We analysed representative seizure types from 33 consecutive patients with drug-resistant focal epilepsy and a structural magnetic resonance imaging lesion (11 mesial temporal sclerosis, nine focal cortical dysplasia, six cortical atrophy, three periventricular nodular heterotopia, three polymicrogyria, and one tuberous sclerosis complex) who underwent depth-electrode electroencephalographic recordings (500 Hz filter, 2000 Hz sampling rate). "
2.	Laser Therapy (Surgery, Laser) 03/01/2014 - "Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia."
3.	Intraperitoneal Injections 06/01/2003 - "Double intraperitoneal injections of methylazoxymethanol (MAM) in pregnant rats induce developmental brain dysgenesis with nodular heterotopia similar to human periventricular nodular heterotopia (PNH) and composed of hyperexcitable neurons. "