Uma alteração no cérebro que surge durante o desenvolvimento, caracterizada por um excesso de pequenas dobras na superfície cerebral e dificuldades cognitivas.
Introdução
O que você precisa saber de cara
Uma alteração no cérebro que surge durante o desenvolvimento, caracterizada por um excesso de pequenas dobras na superfície cerebral e dificuldades cognitivas.
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
+ 81 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 214 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
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant.
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate
CytoplasmCell membrane
Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities
A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease.
Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development
SecretedCytoplasmCell surfaceSynapse
Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked
A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.
Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:21376300, PubMed:26875626, PubMed:26919761, PubMed:28126851, PubMed:28228639, PubMed:36959261, PubMed:7679115, PubMed:7681588, PubMed:7685113). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the long-term potentiation (LTP) (PubMed:26875626). Channel
Cell membranePostsynaptic cell membranePostsynaptic density membraneSynaptic cell membrane
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.
Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate (PubMed:33098764). Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being requ
Endosome membrane
Charcot-Marie-Tooth disease, demyelinating, type 4J
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers (PubMed:23001566, PubMed:26732629, PubMed:28013290). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Plays a critical role in proper axon guidance in both central and periph
Cytoplasm, cytoskeleton
Cortical dysplasia, complex, with other brain malformations 7
A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.
Adhesion G-protein coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions (PubMed:39389061). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as RhoA pathway (PubMed:28874577, PubMed:35418682, PubMed:39389061). ADGRG1 is coupled to G(12) and/or G(13) G proteins (GNA12 and GNA13, re
Cell membraneSecretedMembrane raft
Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)
An autosomal recessive disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech, cerebellar and pyramidal signs, truncal ataxia, and early-onset seizures. Brain imaging shows bilateral frontoparietal polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is considered to be the result of postmigratory abnormal cortical organization.
Variantes genéticas (ClinVar)
1,014 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,307 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
42 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 — Polimicrogiria
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
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2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
6 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 659
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.
Several variants in ATP1A3, a gene encoding the α3-subunit of Na+/K+ adenosine triphosphatase (Na-K-ATPase), are reportedly involved in polymicrogyria. Some cases exhibit transient heart failure (HF); however, its underlying mechanism and prevention strategy remain unknown. The patient was a 5-year-old female who suffered from intractable seizures since birth and was diagnosed with polymicrogyria based on a head magnetic resonance imaging scan. Whole-exome sequencing identified a de novo heterozygous ATP1A3 variant, c.2976_2978del, p.(Asp992del). At 4 years of age, she experienced transient HF for the first time. Because bradycardia could trigger transient HF, we administered cilostazol. However, her bradycardia and subsequent transient HF recurred every few months. Therefore, mexiletine was initiated as an upstream therapy. During 1.5 years of follow-up, she has not experienced HF except once when she could not take mexiletine because of vomiting. Loss of function of the Na-K-ATPase caused high concentrations of intracellular Na+ and subsequent increments in Ca2+ via the Na+/Ca2+ exchanger in the steady state. An augmentation of the late Na+ current (INa, L) due to bradycardia may have led to further increments of intracellular Na+ and Ca2+, causing myocardial stunning. Based on the proposed pathophysiological mechanism, we selected mexiletine, which blocks Na+ channels particularly in the inactivated state, reducing INa, L and the subsequent Ca2+ overload. Mexiletine was administered safely, successfully preventing transient HF.
The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.
TRiCopathies are recently discovered neurodevelopmental diseases caused by pathogenic variants in components of the chaperonin tailless complex polypeptide 1 ring complex (TRiC). Composed of chaperonin containing TCP1 subunits 1-8 (CCT1-8), TRiC acts as a chaperone that is required for folding of 10% of proteome, including actin and tubulin. Patients with TRiCopathies display variable combinations of cognitive impairment, epilepsy, polymicrogyria, white matter reduction, cerebellar hypoplasia and alterations in the peripheral neuromuscular system. Here, we aimed at better understanding the pathophysiological role of Cct3 in neurodevelopment, particularly in myelin formation and the neuromuscular system using zebrafish as a model system. We have generated two CRISPR/Cas9 loss-of-function alleles of the orthologous zebrafish cct3 gene. By combining these alleles with transgenic lines and immunostainings we visualized different cell types and subcellular structures in the nervous system by confocal microscopy. Furthermore, we performed electron microscopy to examine zebrafish in comparison to human patient-derived tissue. We demonstrated that cct3 mutant zebrafish fail to form normal myelin sheaths. This was associated with early apoptotic death of neural crest-derived Schwann cells, which were particularly vulnerable to loss of Cct3 function. In line with the observations in patients, developmental refinement of neuromuscular junctions (NMJ) required Cct3. Furthermore, we observed profound cytoskeletal alterations, in particular of tubulin and microtubules as well as severely disturbed microtubule-dependent axonal transport of organelles in peripheral motor axons. Cct3 displays an essential role in myelination, survival of neural crest-derived cells, NMJ refinement, tubulin and microtubule biology as well as axonal transport. Given that axonal transport is essential for transport of axon-glial and signaling factors shaping the NMJ, we speculate that the essential role of Cct3 in axonal transport is a common denominator for the observed phenotypes. These data enhance our understanding of the conserved role of Cct3/TRiC in the developing nervous system and the pathophysiological mechanisms in TRiCopathies.
Diverse Genetic Etiologies of Unilateral Polymicrogyria.
Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere. As most PMGs occur bilaterally, there has been no specific investigation as to whether the genetic underpinnings of uPMG comprise a subset of or a distinct entity from bilateral PMG. In this study, our goal was to assess both the genetic etiology of uPMG and the value of diagnostic genetic testing in this setting. We conducted a retrospective analysis of clinical data from individuals with uPMG seen in the Brain Development and Genetics Clinic and/or research participants of the Walsh Laboratory at Boston Children's Hospital. The final study cohort included 35 individuals from 30 families who were diagnosed with uPMG on brain magnetic resonance imaging (MRI) and also underwent genetic testing. A likely genetic cause was identified in 26.7% (8/30) of unrelated individuals with uPMG in this cohort and segregated within one family (10/35 total subjects). Recessive genetic causes included ASPM, WDR62, and TMEM216. Dominant causes included 22q deletion syndrome, DYNC1H1, SCN3A, and hereditary hemorrhagic telangiectasia (HHT) genes, ACVRL1 and ENG. This is the first report of variants in DYNC1H1, TMEM216, and ACVRL1 in association with uPMG. The genetic causes of bilateral PMG and uPMG can overlap, but some are unique to certain distributions of the malformation. Genetic explanations for uPMG are found at comparable rates to bilateral PMG, suggesting that germline testing for this unique presentation is warranted. ANN NEUROL 2026.
Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
Macrocephaly capillary malformation syndrome (M-CM or MCAP) is a rare overgrowth disorder characterized by primary megalencephaly, overgrowth, and a range of additional anomalies. This report presents findings from a survey of 101 caregivers or individuals with M-CM, collected by the M-CM Network. Respondents shared medical and psychosocial concerns across the age spectrum, with common issues including motor delays, speech deficits, hydrocephalus, and vascular abnormalities. The survey highlighted significant developmental and behavioral challenges for individuals. The report advocates for continued research focused on the comprehensive needs of patients with M-CM.
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mouse models, disruption of Astn1 results in neuronal migration deficits, a mild reduction in cerebellar volume, and balance and coordination deficits. In humans, bi-allelic ASTN1 variants have been identified in nine individuals with neurodevelopmental disorders (NDDs) with or without brain malformations. ASTN1 additionally interacts with astrotactin 2 (ASTN2) to implement neuronal migration; ASTN2 deletions associate with NDDs with reduced penetrance. Here, we describe eighteen individuals with NDDs from twelve unrelated families with bi-allelic, ultra-rare, predicted damaging variants in ASTN1 and one individual with heterozygous variants in both ASTN1 and ASTN2. We expand the clinical phenotypic descriptions of ASTN1-related NDDs, which range from mild to profound developmental delay or intellectual disability and can be associated with autism, attention-deficient hyperactivity disorder (ADHD), and epilepsy. Other recurrent abnormalities include dysmorphic facial features, hypotonia, spasticity, and ataxia. Additionally, we add to the neuroradiographic phenotype of this condition, which can be normal, mildly dysmorphic (a thin corpus callosum and cerebellar dysgenesis), or severely dysmorphic (polymicrogyria and lissencephaly). Remarkably, three genetic models of multilocus pathogenic variation (MPV), including tri-allelic, double heterozygous, and double homozygous due to distributive absence of heterozygosity (AOH), were observed. This ASTN1 allelic series characterizes the consequences of perturbations in radial-glia-guided neuronal migration in humans, the phenotypic spectrum of ASTN1-related NDDs, and the contribution of MPV to the genetic basis of NDDs.
Publicações recentes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.
Fetal Sylvian Fissure Charts to Evaluate the Development of Fetal Brain using Prenatal MRI.
Inpatient continuous thalamic stereo-electroencephalography stimulation in the evaluation of focal epilepsy: illustrative case.
Malformations of Cortical Development.
📚 EuropePMC452 artigos no totalmostrando 197
Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework.
EpilepsiaSurgical treatment of Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep associated with polymicrogyria: A case report.
Stereotactic and functional neurosurgeryOld Lesions and New Targets: sEEG-Identified Onsets in Traditionally Inoperable Epilepsy Lesions and Associated Surgical Outcomes.
Pediatric neurosurgeryA Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.
Clinical case reportsMexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.
European heart journal. Case reportsMRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria.
Scientific reportsEfficacy of neurosurgical interventions for epilepsy in polymicrogyria: A systematic review.
Epilepsia openThe chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.
Cell death & diseaseDiverse Genetic Etiologies of Unilateral Polymicrogyria.
Annals of neurologyBiophysical modeling of anatomically realistic prenatal cortical folding development.
Research squareNeuropsychological findings in a young adult with congenital bilateral perisylvian syndrome: A case report.
Journal of neuropsychologyAtypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.
Neuropathology : official journal of the Japanese Society of NeuropathologyClinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
Pediatric blood & cancerBi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
American journal of human geneticsPannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex.
bioRxiv : the preprint server for biologyCobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature.
Clinical neuropathologyExpanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.
medRxiv : the preprint server for health sciencesBiallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Clinical geneticsBiophysical basis for brain folding and misfolding patterns in ferrets and humans.
eLifeA Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.
American journal of medical genetics. Part AFrom Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.
Journal of inherited metabolic diseaseThe Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.
Annals of human geneticsChudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.
Radiology case reportsAutomated detection of polymicrogyria in pediatric patients using deep learning.
Scientific reportsA phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.
Cell stem cellRefractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.
Brain & developmentPolymicrogyria with periventricular nodular heterotopia.
Acta neurologica BelgicaAn Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.
Case reports in geneticsSepto-Optic Dysplasia Plus with Bilateral Homonymous Hemianopia - Case Report.
International medical case reports journalDetection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
The application of clinical geneticsCase report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.
Epilepsy & behavior reportsThe non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.
Development (Cambridge, England)Mechanics of the Spatiotemporal Evolution of Sulcal Pits in the Folding Brain.
Human brain mappingNeonatal Freeze Lesion-Induced Cortical Malformation Alters Hippocampal Gene Expression and Leads to Persistent Cognitive and Emotional Deficits in Adult Male Wistar Rats.
Journal of neuroscience researchMAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
Clinical geneticsModeling MPPH syndrome in vivo using Breasi-CRISPR.
HGG advancesUtility of MR fingerprinting in differentiating epileptogenic from non-epileptogenic cortical malformations.
Journal of the neurological sciencesA Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.
Molecular genetics & genomic medicineA Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.
Molecular syndromologyEpilepsy Secondary to Polymicrogyria.
Journal of community hospital internal medicine perspectivesAutism Spectrum Disorder in a Child with Megalencephaly-capillary Malformation-polymicrogyria Syndrome: A Case Report.
Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of NeuropsychopharmacologyDiscrepancy between preoperative noninvasive evaluation and intraoperative electrical cortical stimulation for motor function assessment in diffuse cortical dysplasia.
Surgical neurology internationalTime-Frequency Fingerprint Analysis in SEEG Source-Space to Identify the Epileptogenic Zone.
Annals of clinical and translational neurologyOccipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.
Prenatal diagnosisMalformations of cortical development: Embryology and epilepsy.
EpilepsiaThick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.
American journal of medical genetics. Part AGenetic Profiling of Polymicrogyria in a South Indian Cohort.
Annals of Indian Academy of NeurologyIsolated homonymous quadrantanopia linked to temporal polymicrogyria: a case study utilizing magnetic resonance imaging and diffusion tensor imaging.
Quantitative imaging in medicine and surgeryWDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex.
Neurobiology of diseaseDisruptive lesions can cause developmental anomalies in the fetal brain: Mini-review.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCorpus Callosotomy for Atonic Drop Seizures in Bilateral Malformations of Cortical Development: A Systematic Review of Literature.
CureusExpanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.
Clinical geneticsAicardi syndrome: Clinical spectrum of a rare disorder.
Journal of family medicine and primary careThe response to anti-seizure medications and the development of pharmacoresistant epilepsy in malformations of cortical development.
BMC medicineClinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Brain & developmentPhenotypic Manifestations of a New Variant in HDAC4 Gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsDeterminants of intellectual and developmental outcomes in a multicenter pediatric hemispherotomy cohort.
EpilepsiaThe fetal neurologist: Strategies to improve training, practice, and clinical care.
Developmental medicine and child neurologyFunctional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.
Journal of human geneticsFetal malformations of cortical development: review and clinical guidance.
Brain : a journal of neurology[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaNeuropsychological functioning in children and adolescents with pharmacoresistant epilepsy due to malformations of cortical development.
Epilepsy & behavior : E&BPolymicrogyria in infants with symptomatic congenital cytomegalovirus at birth is associated with epilepsy: A retrospective, descriptive cohort study.
Developmental medicine and child neurologyGrey matter hypertropia in a child with recurrent seizure: A case report.
Radiology case reportsHydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceSupratentorial Intracranial Anomalies in Myelomeningocele Patients.
Turkish neurosurgeryA phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
BMJ openLopsided brain: a case of hemispheric dysplasia with cortical malformation in an infant.
Sudanese journal of paediatricsDivergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.
NeuropediatricsCongenital Bilateral Perisylvian Syndrome: A Rare Case.
Pediatric neurologyEpileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.
Epileptic disorders : international epilepsy journal with videotapeA Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.
CureusCOL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.
American journal of medical genetics. Part AAnatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.
Pediatric neurologyPIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.
Pediatric neurologyEndoscopic Parasagittal Vertical Hemispherotomy: A 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Pediatric neurologyIntegrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.
Neuroradiology[Polymicrogyria associated with ADGRG1 gene variations in a child].
Zhonghua er ke za zhi = Chinese journal of pediatricsRare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
Pediatric neurologySeizure freedom using a regional approach to responsive neurostimulation for multifocal drug-resistant epilepsy: illustrative case.
Journal of neurosurgery. Case lessons[Malformations of cortical development: what's new?].
MedicinaLaser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy.
Annals of neurologyNovel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Clinical geneticsFocally Enlarged Perivascular Spaces in Pediatric and Adolescent Patients with Polymicrogyria-an MRI Study.
Clinical neuroradiologyX-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.
American journal of medical genetics. Part AImagawa-Matsumoto Syndrome: The First Case From Turkey.
Noro psikiyatri arsiviSeizure outcome in drug-resistant epilepsy in the setting of polymicrogyria.
SeizureBilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.
American journal of medical genetics. Part ASotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
AJNR. American journal of neuroradiologyShort- and long-term neurological outcomes of congenital cytomegalovirus infection.
Turkish journal of medical sciencesThe lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.
NeurogeneticsA case of frontal lobe seizures with 'dancing-like' semiology.
European journal of neurologyDe novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
The Journal of clinical investigationGPR56: A potential therapeutic target for neurological and psychiatric disorders.
Biochemical pharmacologyClinical features of unilateral multilobar and hemispheric polymicrogyria (PMG)-related epilepsy and seizure outcome with different treatment options.
Epilepsia openTrends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study.
Epilepsia openBiallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Cell death & diseaseSuccessful Hemispherotomy in a Patient With 22q11.2 Deletion Syndrome Who Had Developmental and Epileptic Encephalopathy With Spike-and-Wave Activation During Sleep.
CureusNovel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.
Epileptic disorders : international epilepsy journal with videotapeHeterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
Brain communicationsA de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
DNA and cell biologyTwo Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.
Neurology. GeneticsTeaching Video NeuroImage: Severe Facioglossal Weakness and Dysarthria Due to Bilateral Perisylvian Polymicrogyria.
NeurologyIntegrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
MetabolitesA novel center-based deep contrastive metric learning method for the detection of polymicrogyria in pediatric brain MRI.
Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging SocietyPAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.
Georgian medical newsStructural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Orphanet journal of rare diseasesDiagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Brain communicationsCortical malformation adjacent to a large pial arteriovenous fistula.
BMJ case reportsDiagnostic work-up in malformations of cortical development.
Developmental medicine and child neurologyHydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.
Developmental medicine and child neurologyAn unusual presentation of de novo RAC3 variation in prenatal diagnosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCase Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Frontiers in pediatricsClinicoradiological Profile of Incomplete Hippocampal Inversion Diagnosed on MR Neuroimaging.
Neurology IndiaShaping the brain: The emergence of cortical structure and folding.
Developmental cellFunctional dysregulation of the auditory cortex in bilateral perisylvian polymicrogyria: Multiparametric case analysis of the absent speech phenotype.
Cortex; a journal devoted to the study of the nervous system and behaviorDevelopment of neonatal-specific sequences for portable ultralow field magnetic resonance brain imaging: a prospective, single-centre, cohort study.
EClinicalMedicineMetabolic heterogeneity in different subtypes of malformations of cortical development causing epilepsy: a proton magnetic resonance spectroscopy study.
Quantitative imaging in medicine and surgeryDandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Molecular syndromologyAutomatic Quantification of Normal Brain Gyrification Patterns and Changes in Fetuses with Polymicrogyria and Lissencephaly Based on MRI.
AJNR. American journal of neuroradiologyPACS2 pathogenic variant associated with malformation of cortical development and epilepsy.
Epileptic disorders : international epilepsy journal with videotapePrenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
Fetal diagnosis and therapyA novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
American journal of medical genetics. Part AAn expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Orphanet journal of rare diseasesMolecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
American journal of medical genetics. Part AStructural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome medicineNavigated transcranial magnetic stimulation to measure motor evoked potentials in a child with hemispheric polymicrogyria and focal epilepsy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGenetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clinical geneticsClinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Molecular genetics and metabolismmTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Neurology. GeneticsNovel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
American journal of medical genetics. Part AChronic traumatic encephalopathy-neuropathologic change in a routine neuropathology service: 7-year follow-up.
Journal of neuropathology and experimental neurologyHomozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain : a journal of neurologyCilostazol treats transient heart failure caused by ATP1A3 variant-associated polymicrogyria.
Brain & developmentPolymicrogyria in a patient after twin-twin transfusion syndrome.
BMJ case reportsCommentary: Mania in Medically Ill Patients.
Journal of psychiatric practicePolymicrogyria: An Unusual Case of Secondary Mania.
Journal of psychiatric practiceNeurosonographic and MRI diagnosis of fetal cerebral lesions heralding polymicrogyria.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyCongenital Bilateral Perisylvian Polymicrogyria in Twin-Twin Transfusion Syndrome and Selective Fetal Growth Restriction.
NeurologyRe-routing GPR56 signalling using Gα12/13 G protein chimeras.
Basic & clinical pharmacology & toxicologyVariants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Pediatric neurologyPolymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
Brain communicationsX-linked neuronal migration disorders: Gender differences and insights for genetic screening.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeurosciencePrenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyReal-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.
SeizureExome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
JAMA neurologyCell-mediated and humoral immune responses to human cytomegalovirus in pregnant women with vertically transmitted infection following primary infection: A case report.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapyObliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansThe somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Genes, chromosomes & cancerCobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.
Journal of neuroimaging : official journal of the American Society of NeuroimagingIntrauterine Blood Transfusion for Parvo B19-Induced Fetal Anemia: Neuroimaging Findings and Long-Term Neurological Outcomes.
Fetal diagnosis and therapyVascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case.
Journal of neurosurgery. Case lessonsExome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceBrain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Journal of neuromuscular diseasesAtretic cephaloceles with different imaging phenotypes - Case series with review of literature.
Journal of neurosciences in rural practiceOverlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
The journal of gene medicineCentral Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.
The American journal of case reportsDiagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
Prenatal diagnosisCongenital bilateral perislyvian syndrome: A rare case report.
Radiology case reportsAn Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.
Stereotactic and functional neurosurgeryObliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.
Acta obstetricia et gynecologica ScandinavicaDe novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genetics in medicine : official journal of the American College of Medical GeneticsDownstream signalling of the disease-associated mutations on GPR56/ADGRG1.
Basic & clinical pharmacology & toxicologyPeriventricular nodular heterotopia associated with a "transmantle band sign" in patients with epilepsy.
EpilepsiaInsights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Molecular neurobiologyGenetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Molecular genetics & genomic medicineMAPping tubulin mutations.
Frontiers in cell and developmental biologyUnilateral perirolandic polymicrogyria with ipsilateral brainstem hypoplasia and compensatory contralateral hyperplasia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Ophthalmic geneticsEvolution of the intracranial features of congenital cytomegalovirus on MRI.
Clinical radiologyCase report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.
Frontiers in geneticsA De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
GenesTMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proceedings of the National Academy of Sciences of the United States of AmericaTMEM161B modulates radial glial scaffolding in neocortical development.
Proceedings of the National Academy of Sciences of the United States of AmericaEncephalocraniocutaneous Lipomatosis: A Case Report and Literature Review.
CureusA case of clinical worsening after stereo-electroencephalographic-guided radiofrequency thermocoagulation in a patient with polymicrogyria.
Epilepsy & behavior reportsAutosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
Molecular syndromologyIdentification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings.
Epilepsia openHigh incidence of early thalamic lesions in the Continuous Spike-Wave related with slow Sleep (CSWS).
Epilepsy & behavior : E&BCOL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.
Epilepsia openSurgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
European journal of medical geneticsDoes 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations?
SeizureCase report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Frontiers in pediatricsSomatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.
Neuropathology : official journal of the Japanese Society of NeuropathologySchizencephaly in Hereditary Hemorrhagic Telangiectasia.
AJNR. American journal of neuroradiologyA 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 neuroradiologyThe genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain : a journal of neurologyThe Genetic Landscape of Polymicrogyria.
Annals of Indian Academy of NeurologySeizure outcome determinants in children after surgery for single unilateral lesions on magnetic resonance imaging: Role of preoperative ictal and interictal electroencephalography.
Epilepsia[Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaInterictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review.
Neurobiology of diseaseAbnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
European journal of medical geneticsImaging of Congenital Malformations of the Brain.
Clinics in perinatologyReactive plasticity and synaptogenesis might correlate lesion size, leading to differences in epilepsy development in malformations of the polymicrogyria spectrum.
SeizureGermline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
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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.
- Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.
- The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.
- Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
- Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
- A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.
- Fetal Sylvian Fissure Charts to Evaluate the Development of Fetal Brain using Prenatal MRI.
- Inpatient continuous thalamic stereo-electroencephalography stimulation in the evaluation of focal epilepsy: illustrative case.
- Malformations of Cortical Development.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35981(Orphanet)
- MONDO:0000087(MONDO)
- GARD:18818(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2991265(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
