A heterotopia nodular periventricular (HPN) é uma malformação cerebral, devido à migração neuronal anormal, na qual um subconjunto de neurônios não consegue migrar para o córtex cerebral em desenvolvimento e permanece como nódulos que revestem a superfície ventricular. A HPN clássica é uma doença dominante rara, ligada ao cromossomo X, muito mais frequente em mulheres que apresentam inteligência normal a déficit intelectual limítrofe, epilepsia de gravidade variável e sinais extra-central do sistema nervoso, especialmente defeitos cardiovasculares ou coagulopatia. O distúrbio geralmente está associado à letalidade pré-natal em homens.
Introdução
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A heterotopia nodular periventricular (HPN) é uma malformação cerebral, devido à migração neuronal anormal, na qual um subconjunto de neurônios não consegue migrar para o córtex cerebral em desenvolvimento e permanece como nódulos que revestem a superfície ventricular. A HPN clássica é uma doença dominante rara, ligada ao cromossomo X, muito mais frequente em mulheres que apresentam inteligência normal a déficit intelectual limítrofe, epilepsia de gravidade variável e sinais extra-central do sistema nervoso, especialmente defeitos cardiovasculares ou coagulopatia. O distúrbio geralmente está associado à letalidade pré-natal em homens.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 116 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked dominant.
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in cilio
Cytoplasm, cell cortexCytoplasm, cytoskeletonPerikaryonCell projection, growth coneCell projection, podosome
Periventricular nodular heterotopia 1
A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.
Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DA
Cytoplasm, cytoskeletonCytoplasmSynapseCell projection, dendritic spine
Periventricular nodular heterotopia 9
A form of 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. PVNH9 is an autosomal dominant disorder with incomplete penetrance, characterized by impaired intellectual development, cognitive defects, learning disabilities, and behavior abnormalities. Some patients develop seizures.
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic re
MembraneEndoplasmic reticulum
Lissencephaly 8
A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
Small GTPase involved in protein trafficking between different compartments (PubMed:8253837). Modulates vesicle budding and uncoating within the Golgi complex (PubMed:8253837). In its GTP-bound form, triggers the recruitment of coatomer proteins to the Golgi membrane (PubMed:8253837). The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles (PubMed:8253837). The GTP-bound form interacts with PICK1 to
Golgi apparatus membraneSynapse, synaptosomePostsynaptic density
Periventricular nodular heterotopia 8
A form of 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. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit-hyperactivity disorder.
E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair (PubMed:20064473, PubMed:31959741, PubMed:33608556). Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation (PubMed:15496141). Downregulates autophagy and cell growth by ubiquitinating and reducing cellu
CytoplasmGolgi apparatusEndosome, multivesicular body
Periventricular nodular heterotopia 7
A form of 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. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly.
May play a role in neuronal migration during embryonic development
Endoplasmic reticulum membrane
Periventricular nodular heterotopia 6
A form of 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. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy.
Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from rec
CytoplasmMembraneGolgi apparatusCytoplasm, perinuclear regionGolgi apparatus, trans-Golgi networkEndosomeCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCell projection, dendriteCytoplasmic vesicleSynapseCytoplasm, cytoskeleton
Periventricular nodular heterotopia 2
A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.
Variantes genéticas (ClinVar)
1,387 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 237 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
25 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Heterotopia nodular periventricular
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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2 ensaios clínicos encontrados.
Publicações mais relevantes
Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopia.
Periventricular nodular heterotopia (PNH) is a neuronal migration disorder caused by the failure of neurons to migrate properly to the cerebral cortex, characterized predominantly by epilepsy. Most PNH cases are associated with variants in FLNA, which is inherited in an X-linked pattern and exhibits a female predominance. Affected male patients typically experience prenatal or early postnatal lethality; only those with distal truncating or mosaic variants have been reported to survive. In this study, we aimed to characterize the clinical and genetic features of a Chinese pedigree with PNH. Whole-exome sequencing (WES) was performed on genomic DNA isolated from the peripheral blood. Mosaicism levels were quantified using droplet digital PCR (ddPCR), transcriptomic alterations were analyzed by RNA sequencing (RNA-seq), and splicing defects were investigated via a minigene splicing assay. WES analysis identified a novel splicing variant (NM_001110556.2: c.4599-2A > G) in the FLNA gene of the proband. Sanger sequencing revealed a double peak at the same site in her father. Droplet digital PCR confirmed paternal somatic mosaicism, with variant allele frequencies of 65.98% in the blood, 60.38% in the sperm, and 28.95% in the buccal mucosa. RNA-seq and minigene assays detected an aberrant transcript containing a 10 bp deletion at the 5' end of exon 28. The minigene assay further revealed 2 mutant transcripts: one with the same 10 bp deletion and another with complete skipping of exon 28. This study expands the phenotypic and genetics spectrum of PNH and demonstrates a dual PNH phenotype with a bi-transcript mechanism. It also provides clinical evidence of mosaic inheritance and tissue-specific mosaicism, offering valuable implications for genetic counseling and prenatal diagnosis.
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
The CELSR1 gene is a core component of the tissue/planar cell polarity signaling pathway. It encodes a developmentally regulated protein that belongs to the adhesion G protein-coupled receptors. Herein we describe seven subjects, from five unrelated families, featuring a neurodevelopmental disorder associated with biallelic CELSR1 variants. The main phenotypic features of this disorder are different types of brain malformations (including pachygyria, periventricular nodular heterotopia, abnormal corpus callosum, white matter abnormalities, hypoplasia of brainstem and cerebellum), variable degrees of neurodevelopmental delay and intellectual disability, behavioral disorders, and, in some subjects, epilepsy. Using whole exome sequencing, we identify five compound heterozygous variants and one homozygous variant of CELSR1 in these subjects. We infer the pathogenicity and functional effects of these variants through bioinformatic analysis, protein modelling and prediction tools. To further characterize the effects of mutant CELSR1, we generate Celsr1 knockout mice, which exhibit partial agenesis of the corpus callosum, periventricular heterotopia and irregular shape of the ventricular/subventricular zone, enlarged lateral ventricles with a fully penetrant phenotype, and increased susceptibility to seizures. These findings emphasize the importance of CELSR1 in several polarity-dependent processes during embryonic and postnatal development.
Brain network characteristics of favorable outcomes following radiofrequency thermocoagulation for drug-resistant epilepsy in periventricular nodular heterotopia patients.
This study investigated the brain network characteristics that are associated with favorable outcomes following radiofrequency thermocoagulation (RF-TC) treatment in patients with drug-resistant epilepsy related to periventricular nodular heterotopia (PNH). The goal of the study was to elucidate the potential alterations exhibited by the epileptic networks of PNH patients and provide insights for optimizing surgical strategies. Seven PNH patients were enrolled. Stereoelectroencephalography data collected from four patients were analyzed. The channels were categorized as thermocoagulated (TC; n = 107) or non-thermocoagulated (non-TC; n = 368). Two 200-second epochs were selected for analysis purposes: one preceding RF-TC and one commencing 15 min after RF-TC. The power spectral density (PSD) and functional connectivity (FC) changes were compared between these epochs. To mitigate the potential volume conduction effects amplified by post-RF-TC lesions, the phase lag index (PLI) was employed alongside mutual information (MI) for the FC analysis, providing a more robust assessment of network changes. At the 12-month follow-up point, all seven patients achieved Engel class I outcomes. After RF-TC, the PSD decreased significantly across all frequency bands in both TC channels (p < 0.01 for all bands) and only θ band (p < 0.001) in non-TC channels with a more pronounced reduction observed in the TC channels. An MI-based FC analysis revealed increased FC across almost all bands in the TC channels after RF-TC (δ band: p = 0.542; other bands: p < 0.01). Conversely, the non-TC channels exhibited decreased FC in all bands except δ and ripple bands. A PLI-based analysis revealed a significant differences between TC and non-TC channels in the β (p = 0.001) and low-ripple band (p = 0.011) for the post-TC period. Nodules and/or the overlying cortex exhibiting epileptic network connectivity may function as a seizure generation unit, potentially facilitated and augmented by other networks. PLI-detected β and ripple band changes may constitute the key phase-synchronous pathway through which RF-TC modulates brain networks. Clinical trial number: not applicable.
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
MAP1B (microtubule-associated protein 1B) encodes a cytoskeletal regulator critical for neuronal migration, axon guidance, and cortical circuit formation. Disease-causing variants (DCVs) in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG). However, the phenotypic and neuroimaging spectrum associated with MAP1B-related disease remains incompletely defined. We describe seven affected individuals from three unrelated families with pathogenic MAP1B variants. Clinical, neuroimaging, and genetic data were analyzed in the context of emerging literature to delineate the pathogenic mechanisms and phenotypic variability associated with MAP1B dysfunction. All individuals carried loss of function MAP1B variants. Clinical features included global developmental delay, intellectual disability, behavioural dysregulation, and focal epilepsy. Neuroimaging revealed anteriorly predominant PVNH in four of five cases with neuroimaging available. These findings reinforce MAP1B's central role in cytoskeletal regulation, neuronal positioning, and synaptic connectivity. Functional data from animal and cell models support a mechanism involving impaired microtubule stabilization, altered growth cone dynamics, and dysregulated axon branching. Our case series expands the clinical and radiological phenotype associated with MAP1B-related disorders and highlights its position as a key cytoskeletal regulator in human corticogenesis. Systematic genotype-phenotype correlation and functional studies are needed to inform diagnostic interpretation and explore therapeutic avenues in MAP1B-associated disease.
Old Lesions and New Targets: sEEG-Identified Onsets in Traditionally Inoperable Epilepsy Lesions and Associated Surgical Outcomes.
Patients with epilepsy who do not respond to pharmacotherapy are often offered a noninvasive diagnostic workup to localize an epileptogenic focus that might be treated with resection, neuromodulation, or ablation. Yet in many cases, this evaluation fails to identify surgical candidates. For example, patients with tuberous sclerosis, periventricular nodular heterotopia, or polymicrogyria may have clearly visible lesions on MRI, but the resulting epileptogenic onset zones/networks are often too complex for scalp electroencephalography to decode. Similarly, seizures arising from the cingulate gyrus originate in deep structures that are inaccessible to noninvasive techniques. In post-traumatic epilepsy without a dominant lesion such as mesial temporal sclerosis, injury is often too diffuse to define a clear seizure-onset zone. Stereoelectroencephalography (sEEG), with its ability to map deep brain networks in detail, offers a unique solution for these challenging cases. In this review, we highlight how sEEG has expanded surgical options and provided hope for seizure freedom in patients once considered medically and surgically untreatable, and we aim to encourage further study into its potential applications.
Publicações recentes
Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy.
Differences in iron content between gray matter heterotopia and normal gray matter.
Autopsy case of polymicrogyria and periventricular nodular heterotopia with psychotic symptoms.
Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopia.
📚 EuropePMC203 artigos no totalmostrando 198
Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopia.
Neurology. GeneticsOld Lesions and New Targets: sEEG-Identified Onsets in Traditionally Inoperable Epilepsy Lesions and Associated Surgical Outcomes.
Pediatric neurosurgeryDouble Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.
Internal medicine (Tokyo, Japan)Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation detected on Fetal MRI: An Under-Recognized Association.
AJNR. American journal of neuroradiologyCase Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Frontiers in geneticsBiallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
Nature communicationsBrain network characteristics of favorable outcomes following radiofrequency thermocoagulation for drug-resistant epilepsy in periventricular nodular heterotopia patients.
BMC neurologyMelnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.
Prague medical reportCase Report and Literature Review-From Ultrasound to Genotype: Periventricular Nodular Heterotopia.
Case reports in obstetrics and gynecologyBilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.
Congenital anomaliesStereoelectroencephalography-guided radiofrequency thermocoagulation for refractory epilepsy associated with periventricular nodular heterotopia: a multicenter retrospective cohort study.
International journal of surgery (London, England)Polymicrogyria with periventricular nodular heterotopia.
Acta neurologica BelgicaSevere Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.
GenesMAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
Clinical geneticsSuccessful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.
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American journal of medical genetics. Part ANovel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.
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Frontiers in pharmacologyLaser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy.
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Radiology case reportsA new variant confirms GNAI2 as a rare cause of periventricular nodular heterotopia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyStereo-electroencephalography-guided radiofrequency thermocoagulation restricted to periventricular nodular heterotopias in patients with drug-resistant epilepsy: A single center experience.
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Neurosurgical focus: VideoLaser interstitial thermal therapy of a single nodule in a complex epileptic network with multiple periventricular nodular heterotopias.
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BMC medical genomicsDiagnostic work-up in malformations of cortical development.
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EpilepsiaExploring individual fixel-based white matter abnormalities in epilepsy.
Brain communicationsFilamin A gene mutation in an infant with progressive pulmonary emphysema, periventricular nodular heterotopia and congenital heart disease.
BMJ case reportsDiffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
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Radiology case reportsBilateral periventricular nodular heterotopia and cortical dysplasia due to filamin 1 gene mutation: An invasive EEG exploration and histopathologic study.
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BMC pediatricsIs periventricular heterotopia a useful endpoint for developmental thyroid hormone system disruption in mouse toxicity studies?
Regulatory toxicology and pharmacology : RTPSZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Frontiers in molecular neuroscienceAccuracy of robot-assisted stereotactic MRI-guided laser ablation in children with epilepsy.
Journal of neurosurgery. PediatricsARF1-related disorder: phenotypic and molecular spectrum.
Journal of medical geneticsThe phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
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Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPeriventricular nodular heterotopia associated with a "transmantle band sign" in patients with epilepsy.
EpilepsiaGenetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Molecular genetics & genomic medicineAutistic Behavior as Novel Clinical Finding in OFD1 Syndrome.
GenesModeling congenital brain malformations with brain organoids: a narrative review.
Translational pediatricsLocalized activity alternations in periventricular nodular heterotopia-related epilepsy.
CNS neuroscience & therapeuticsPeriventricular heterotopia in a male child with USP9X missense variant.
American journal of medical genetics. Part APregnancy denial and unplanned home delivery: Considerations about fetal death causes and maternal drug use imputability.
Forensic science internationalModified posterior quadrant disconnection in surgical treatment of drug-resistant epilepsy in a patient with left temporal and occipital lobe malformation.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoHuman periventricular nodular heterotopia shows several interictal epileptic patterns and hyperexcitability of neuronal firing.
Frontiers in neurologySinus of Valsalva Aneurysm in Females.
International heart journalDoes 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations?
SeizureFurther characterization of NFIB-associated phenotypes: Report of two new individuals.
American journal of medical genetics. Part AA novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
Journal of human geneticsDistinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
AJNR. American journal of neuroradiologyCase report: Filamin A mutation lung disease recognized in an 11-year-old child.
Pediatric pulmonologyThe analysis of 18 F-FDG PET/MRI, electroencephalography, and semiology in patients with gray matter heterotopia: A pilot study.
Acta neurologica ScandinavicaFilamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease-like Vascular Formation Associated With RNF213 p.R4810K Variant.
Neurology. GeneticsPeriventricular nodular heterotopia is coupled with the neocortex during resting and task states.
Cerebral cortex (New York, N.Y. : 1991)Periventricular nodular heterotopy of the gray matter: A case report.
Radiology case reportsAsymmetrical aortic root aneurism in patient with Filamin A mutation.
Journal of cardiac surgeryMagnetic resonance imaging features of isolated periventricular heterotopia in pediatric epilepsy: a comparative study.
Epileptic disorders : international epilepsy journal with videotapeSpatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
Science (New York, N.Y.)Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Biomedical journalAn Independent Seizure-Onset Zone in Medial Temporal Lobe Found by 18 F-FDG PET Imaging Besides Epileptogenic Periventricular Nodular Heterotopia.
Clinical nuclear medicineComputational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
PloS oneOphthalmic Findings Associated with NEDD4L-related Disorder.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPhenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.
BMJ case reportsUsing magnetic resonance fingerprinting to characterize periventricular nodular heterotopias in pharmacoresistant epilepsy.
EpilepsiaX-linked hereditary periventricular nodular heterotopia.
NeurologiaPlatelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
American journal of medical genetics. Part AThree Generations of FLNA-Associated Periventricular Nodular Heterotopia.
Case reports in neurologyCardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Orphanet journal of rare diseasesNetwork of autoscopic hallucinations elicited by intracerebral stimulations of periventricular nodular heterotopia: An SEEG study.
Cortex; a journal devoted to the study of the nervous system and behaviorMagnetic Resonance-Guided Laser Interstitial Thermal Therapy (MR-gLiTT) in Pediatric Epilepsy Surgery: State of the Art and Presentation of Giannina Gaslini Children's Hospital (Genoa, Italy) Series.
Frontiers in neurologyGenetic causes underlying grey matter heterotopia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.
Journal of medical case reports"Within a minute" detection of focal cortical dysplasia.
NeuroradiologyHeterotopia in Individuals with 22q11.2 Deletion Syndrome.
AJNR. American journal of neuroradiologyMagnetic resonance-guided laser interstitial thermal therapy for pediatric periventricular nodular heterotopia-related epilepsy.
Journal of neurosurgery. PediatricsGray matter heterotopia: clinical and neuroimaging report on 22 children.
Acta neurologica BelgicaARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
Journal of medical genetics[New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFurther evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Human mutationConvolutional neural networks to identify malformations of cortical development: A feasibility study.
SeizureAdmixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
MedicineCardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.
Advances in neonatal care : official journal of the National Association of Neonatal NursesEpilepsy phenotypes associated with MAP1B-related brain malformations.
Epileptic disorders : international epilepsy journal with videotapeRadiological and Clinical Value of 7T MRI for Evaluating 3T-Visible Lesions in Pharmacoresistant Focal Epilepsies.
Frontiers in neurologyIntracranial Electroencephalography Reveals Selective Responses to Cognitive Stimuli in the Periventricular Heterotopias.
The Journal of neuroscience : the official journal of the Society for NeuroscienceFilamin A Mutations: A New Cause of Unexplained Emphysema in Adults?
ChestThree Different FDG Patterns in Periventricular Nodular Heterotopia Correlated to Video Stereoelectroencephalography.
Clinical nuclear medicineCompound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
BMC medical genomicsSpeech, Language, and Oromotor Skills in Patients With Polymicrogyria.
NeurologyNeural functional connectivity in patients with periventricular nodular heterotopia-mediated epilepsy.
Epilepsy researchIncomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis.
EpilepsiaHemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
Human genome variationRadiofrequency Thermocoagulation in Refractory Focal Epilepsy: The Montreal Neurological Institute Experience.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesThe spectrum of brain malformations and disruptions in twins.
American journal of medical genetics. Part ATreatment of Epilepsy Associated with Periventricular Nodular Heterotopia.
Current neurology and neuroscience reportsHippocampal deep brain stimulation: a therapeutic option in patients with extensive bilateral periventricular nodular heterotopia: a case report.
Epileptic disorders : international epilepsy journal with videotapePeriventricular heterotopias: Broadening of the clinical spectrum of the clathrin 1 gene (CLTC) pathogenic variants.
NeurologiaWidespread cortical dyslamination in epilepsy patients with malformations of cortical development.
NeuroradiologyPreoperative evaluation of dynamic contrast-enhanced MRI-guided lesion identification using morphometric and textural analysis for patients with epilepsy.
Experimental and therapeutic medicineNovel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Experimental and therapeutic medicineWhole-brain multimodal MRI phenotyping of periventricular nodular heterotopia.
NeurologyCerebral organoids to unravel the mechanisms underlying malformations of human cortical development.
Seminars in cell & developmental biologyTensor-valued diffusion MRI differentiates cortex and white matter in malformations of cortical development associated with epilepsy.
EpilepsiaPeriventricular nodular heterotopia in a Chihuahua.
Journal of veterinary internal medicineX-linked Bilateral Periventricular Nodular Heterotopia.
Journal of the Belgian Society of RadiologyLaser Interstitial Thermal Therapy for Epileptogenic Periventricular Nodular Heterotopia.
World neurosurgeryECE2 regulates neurogenesis and neuronal migration during human cortical development.
EMBO reportsStereo-EEG recording and minimally invasive treatment of a periventricular nodular heterotopy: Two-in-one strategy.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyRecurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.
Frontiers in geneticsThe X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Human mutationFunctional and resting-state characterizations of a periventricular heterotopic nodule associated with epileptogenic activity.
Neurosurgical focusMagnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Epilepsy: Systematic Review of Technique, Indications, and Outcomes.
Neurosurgery[Pacemakers for young patients – not so fast].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsResting-state functional connectivity alterations in periventricular nodular heterotopia related epilepsy.
Scientific reports[Periventricular nodular heterotopia].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeStereo-EEG ictal/interictal patterns and underlying pathologies.
SeizureCase 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain.
The New England journal of medicine[Like pearls on a string].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeReading deficits correlate with cortical and subcortical volume changes in a genetic migration disorder.
MedicineA somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.
EpilepsiaExperience on the use of Vagus Nerve Stimulation during pregnancy.
Epilepsy research[Periventricular nodular heterotopia : a pediatric case].
Revue medicale de LiegeMAP1B related syndrome: Case presentation and review of literature.
American journal of medical genetics. Part AInternodular functional connectivity in heterotopia-related epilepsy.
Annals of clinical and translational neurologyTreatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyTeaching NeuroImages: Medically intractable epilepsy and ictal asystole treated with cardiac pacing.
NeurologyAuthor Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Journal of human geneticsThe Role of FDG-PET in Patients with Epilepsy Related to Periventricular Nodular Heterotopias: Diagnostic Features and Long-Term Outcome.
Journal of neuroimaging : official journal of the American Society of NeuroimagingMicrodeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease.
Respiratory investigationRe: Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyCongenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
BMC pediatricsDerepression of sonic hedgehog signaling upon Gpr161 deletion unravels forebrain and ventricular abnormalities.
Developmental biologyLong term seizure freedom on perampanel in highly drug-resistant epilepsy caused by bilateral periventricular nodular heterotopia: A case report.
Epilepsy & behavior case reportsAltered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia.
Nature medicineMild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.
Annals of clinical and translational neurologyMalformations of cortical development: The role of 7-Tesla magnetic resonance imaging in diagnosis.
Revue neurologiquePrevalence of neuropsychiatric symptoms associated with malformations of cortical development.
Epilepsy & behavior : E&BSurgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
SeizureMultiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
European journal of human genetics : EJHGHigh-frequency oscillations and spikes running down after SEEG-guided thermocoagulations in the epileptogenic network of periventricular nodular heterotopia.
Epilepsy researchA case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study.
MedicineA review of filamin A mutations and associated interstitial lung disease.
European journal of pediatricsThe clinical and imaging features of gray matter heterotopia: a clinical analysis on 15 patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
Cell reportsPeriventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.
Annals of clinical and translational neurologyHeterotopia or overlaying cortex: What about in-between?
Epilepsy & behavior case reportsPSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsFamilial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Molecular genetics & genomic medicinePrenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
European journal of medical geneticsStereo-electroencephalography-guided radiofrequency thermocoagulation in patients with focal epilepsy: A systematic review and meta-analysis.
EpilepsiaA Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia.
Journal of pediatric neurosciencesBi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.
European journal of medical geneticsFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
BMC medical geneticsIRE1α governs cytoskeleton remodelling and cell migration through a direct interaction with filamin A.
Nature cell biologyFunctional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation.
Frontiers in integrative neuroscienceDe novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS geneticsMob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.
Frontiers in cellular neuroscienceA novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Brain & developmentAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopia.
- Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
- Brain network characteristics of favorable outcomes following radiofrequency thermocoagulation for drug-resistant epilepsy in periventricular nodular heterotopia patients.
- MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
- Old Lesions and New Targets: sEEG-Identified Onsets in Traditionally Inoperable Epilepsy Lesions and Associated Surgical Outcomes.
- Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
- Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy.
- Differences in iron content between gray matter heterotopia and normal gray matter.
- Autopsy case of polymicrogyria and periventricular nodular heterotopia with psychotic symptoms.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98892(Orphanet)
- MONDO:0020341(MONDO)
- GARD:12724(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18553263(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
