Raras
Buscar doenças, sintomas, genes...
Polimicrogiria
ORPHA:35981CID-11 · LA05.50DOENÇA RARA

Uma alteração no cérebro que surge durante o desenvolvimento, caracterizada por um excesso de pequenas dobras na superfície cerebral e dificuldades cognitivas.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
2 ensaios
6 total registrados no ClinicalTrials.gov
Publicações científicas
1.451 artigos
Último publicado: 2026 Mar 23

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
69 sintomas
🦴
Ossos e articulações
17 sintomas
💪
Músculos
9 sintomas
📏
Crescimento
6 sintomas
👂
Ouvidos
6 sintomas
👁️
Olhos
6 sintomas

+ 81 sintomas em outras categorias

Características mais comuns

Tetraparesia
Movimentos involuntários
Postura anormal
Controle cefálico pobre
Acidente vascular cerebral
Epistaxe
214sintomas
Sem dados (214)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 214 características clínicas mais associadas, ordenadas por frequência.

TetraparesiaTetraparesis
Movimentos involuntáriosInvoluntary movements
Postura anormalAbnormal posturing
Controle cefálico pobrePoor head control
Acidente vascular cerebralStroke

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.451PubMed
Últimos 10 anos200publicações
Pico202562 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

PI4KAPhosphatidylinositol 4-kinase alphaDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate

LOCALIZAÇÃO

CytoplasmCell membrane

VIAS BIOLÓGICAS (2)
Synthesis of PIPs at the Golgi membraneSynthesis of PIPs at the ER membrane
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Córtex cerebral
113.3 TPM
Cerebelo
110.8 TPM
Cérebro - Hemisfério cerebelar
103.0 TPM
Brain Frontal Cortex BA9
100.3 TPM
Útero
66.4 TPM
OUTRAS DOENÇAS (5)
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisgastrointestinal defects and immunodeficiency syndrome 2spastic paraplegia 84, autosomal recessivebilateral perisylvian polymicrogyria
HGNC:8983UniProt:P42356
SRPX2Sushi repeat-containing protein SRPX2Candidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

SecretedCytoplasmCell surfaceSynapse

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
40.5 TPM
Fibroblastos
35.2 TPM
Adipose Visceral Omentum
34.4 TPM
Nervo tibial
29.5 TPM
Mama
21.9 TPM
OUTRAS DOENÇAS (4)
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linkedrolandic epilepsy-speech dyspraxia syndromeself-limited epilepsy with centrotemporal spikesbilateral perisylvian polymicrogyria
HGNC:30668UniProt:O60687
GRIN1Glutamate receptor ionotropic, NMDA 1Candidate gene tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membranePostsynaptic cell membranePostsynaptic density membraneSynaptic cell membrane

VIAS BIOLÓGICAS (9)
RAF/MAP kinase cascadeRas activation upon Ca2+ influx through NMDA receptorUnblocking of NMDA receptors, glutamate binding and activationLong-term potentiationNegative regulation of NMDA receptor-mediated neuronal transmission
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Córtex cerebral
222.8 TPM
Cerebelo
219.9 TPM
Brain Frontal Cortex BA9
191.7 TPM
Cérebro - Hemisfério cerebelar
171.8 TPM
Brain Nucleus accumbens basal ganglia
119.2 TPM
OUTRAS DOENÇAS (7)
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantneurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessivedevelopmental and epileptic encephalopathy 101early-infantile DEE
HGNC:4584UniProt:Q05586
FIG4Polyphosphoinositide phosphataseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endosome membrane

VIAS BIOLÓGICAS (1)
Synthesis of PIPs at the Golgi membrane
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
25.0 TPM
Brain Frontal Cortex BA9
22.9 TPM
Aorta
22.2 TPM
Baço
20.8 TPM
Pituitária
20.7 TPM
OUTRAS DOENÇAS (5)
amyotrophic lateral sclerosis type 11Charcot-Marie-Tooth disease type 4Jbilateral parasagittal parieto-occipital polymicrogyriaYunis-Varon syndrome
HGNC:16873UniProt:Q92562
TUBB2BTubulin beta-2B chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytoskeleton

VIAS BIOLÓGICAS (10)
HCMV Early EventsPKR-mediated signalingGap junction assemblyAggrephagyAssembly and cell surface presentation of NMDA receptors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
377.8 TPM
Brain Nucleus accumbens basal ganglia
248.1 TPM
Substância negra
229.1 TPM
Hipotálamo
205.3 TPM
Brain Caudate basal ganglia
203.2 TPM
OUTRAS DOENÇAS (4)
complex cortical dysplasia with other brain malformations 7tubulinopathy-associated dysgyriacerebellar ataxia, intellectual disability, and dysequilibriumcongenital fibrosis of extraocular muscles
HGNC:30829UniProt:Q9BVA1
ADGRG1Adhesion G-protein coupled receptor G1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneSecretedMembrane raft

MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (3)
bilateral frontoparietal polymicrogyriapolymicrogyria, bilateral perisylvian, autosomal recessivebilateral perisylvian polymicrogyria
HGNC:4512UniProt:Q9Y653

Variantes genéticas (ClinVar)

1,014 variantes patogênicas registradas no ClinVar.

🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18919477-21459713)x3 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:19017218-21105423)x1 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18161474-21110475)x3 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18929330-21110475)x1 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18153983-21110475)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,307 variantes classificadas pelo ClinVar.

588
719
VUS (45.0%)
Benigna (55.0%)
VARIANTES MAIS SIGNIFICATIVAS
PIK3R2: NM_005027.4(PIK3R2):c.1873G>A (p.Gly625Ser) [Uncertain significance]
PIK3R2: NM_005027.4(PIK3R2):c.343C>T (p.Pro115Ser) [Uncertain significance]
PIK3R2: NM_005027.4(PIK3R2):c.458C>T (p.Pro153Leu) [Uncertain significance]
PIK3R2: NM_005027.4(PIK3R2):c.1024G>A (p.Glu342Lys) [Uncertain significance]
AKT3: NM_005465.7(AKT3):c.863C>T (p.Thr288Ile) [Uncertain significance]

Vias biológicas (Reactome)

42 vias biológicas associadas aos genes desta condição.

Synthesis of PIPs at the ER membrane Synthesis of PIPs at the Golgi membrane EPHB-mediated forward signaling Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Neurexins and neuroligins Synaptic adhesion-like molecules Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane Translocation of SLC2A4 (GLUT4) to the plasma membrane Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Recruitment of NuMA to mitotic centrosomes Prefoldin mediated transfer of substrate to CCT/TriC Formation of tubulin folding intermediates by CCT/TriC Post-chaperonin tubulin folding pathway Recycling pathway of L1 Hedgehog 'off' state Cargo trafficking to the periciliary membrane Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin HCMV Early Events Activation of AMPK downstream of NMDARs Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins

Diagnóstico

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Tratamento e manejo

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·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
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Onde tratar no SUS

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🇧🇷 Atendimento SUS — Polimicrogiria

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Ensaios clínicos abertos e novidades científicas recentes

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Outros ensaios clínicos

6 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
659 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 659

#1

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.

European heart journal. Case reports2026 Feb

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.

#2

The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.

Cell death &amp; disease2026 Feb 12

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.

#3

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Annals of neurology2026 Feb 11

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.

#4

Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

Pediatric blood &amp; cancer2026 Apr

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.

#5

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

American journal of human genetics2026 Feb 05

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

Ver todas no PubMed

📚 EuropePMC452 artigos no totalmostrando 197

2026

Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework.

Epilepsia
2026

Surgical treatment of Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep associated with polymicrogyria: A case report.

Stereotactic and functional neurosurgery
2026

Old Lesions and New Targets: sEEG-Identified Onsets in Traditionally Inoperable Epilepsy Lesions and Associated Surgical Outcomes.

Pediatric neurosurgery
2026

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.

Clinical case reports
2026

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.

European heart journal. Case reports
2026

MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria.

Scientific reports
2026

Efficacy of neurosurgical interventions for epilepsy in polymicrogyria: A systematic review.

Epilepsia open
2026

The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.

Cell death &amp; disease
2026

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Annals of neurology
2026

Biophysical modeling of anatomically realistic prenatal cortical folding development.

Research square
2026

Neuropsychological findings in a young adult with congenital bilateral perisylvian syndrome: A case report.

Journal of neuropsychology
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

Pediatric blood &amp; cancer
2026

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

American journal of human genetics
2026

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex.

bioRxiv : the preprint server for biology
2026

Cobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature.

Clinical neuropathology
2025

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

medRxiv : the preprint server for health sciences
2026

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Clinical genetics
2025

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

eLife
2025

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

American journal of medical genetics. Part A
2026

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Journal of inherited metabolic disease
2025

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

Annals of human genetics
2026

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Radiology case reports
2025

Automated detection of polymicrogyria in pediatric patients using deep learning.

Scientific reports
2025

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.

Cell stem cell
2025

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Brain &amp; development
2025

Polymicrogyria with periventricular nodular heterotopia.

Acta neurologica Belgica
2025

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.

Case reports in genetics
2025

Septo-Optic Dysplasia Plus with Bilateral Homonymous Hemianopia - Case Report.

International medical case reports journal
2025

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

The application of clinical genetics
2025

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Epilepsy &amp; behavior reports
2025

The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.

Development (Cambridge, England)
2025

Mechanics of the Spatiotemporal Evolution of Sulcal Pits in the Folding Brain.

Human brain mapping
2025

Neonatal 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 research
2026

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.

Clinical genetics
2025

Modeling MPPH syndrome in vivo using Breasi-CRISPR.

HGG advances
2025

Utility of MR fingerprinting in differentiating epileptogenic from non-epileptogenic cortical malformations.

Journal of the neurological sciences
2025

A 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 &amp; genomic medicine
2025

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.

Molecular syndromology
2025

Epilepsy Secondary to Polymicrogyria.

Journal of community hospital internal medicine perspectives
2025

Autism 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 Neuropsychopharmacology
2025

Discrepancy between preoperative noninvasive evaluation and intraoperative electrical cortical stimulation for motor function assessment in diffuse cortical dysplasia.

Surgical neurology international
2025

Time-Frequency Fingerprint Analysis in SEEG Source-Space to Identify the Epileptogenic Zone.

Annals of clinical and translational neurology
2025

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Prenatal diagnosis
2025

Malformations of cortical development: Embryology and epilepsy.

Epilepsia
2025

Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.

American journal of medical genetics. Part A
2025

Genetic Profiling of Polymicrogyria in a South Indian Cohort.

Annals of Indian Academy of Neurology
2025

Isolated homonymous quadrantanopia linked to temporal polymicrogyria: a case study utilizing magnetic resonance imaging and diffusion tensor imaging.

Quantitative imaging in medicine and surgery
2025

WDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex.

Neurobiology of disease
2025

Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Corpus Callosotomy for Atonic Drop Seizures in Bilateral Malformations of Cortical Development: A Systematic Review of Literature.

Cureus
2025

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Clinical genetics
2025

Aicardi syndrome: Clinical spectrum of a rare disorder.

Journal of family medicine and primary care
2025

The response to anti-seizure medications and the development of pharmacoresistant epilepsy in malformations of cortical development.

BMC medicine
2025

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Brain &amp; development
2025

Phenotypic 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 Genetics
2025

Determinants of intellectual and developmental outcomes in a multicenter pediatric hemispherotomy cohort.

Epilepsia
2025

The fetal neurologist: Strategies to improve training, practice, and clinical care.

Developmental medicine and child neurology
2025

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Journal of human genetics
2025

Fetal malformations of cortical development: review and clinical guidance.

Brain : a journal of neurology
2025

[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. Korsakova
2025

Neuropsychological functioning in children and adolescents with pharmacoresistant epilepsy due to malformations of cortical development.

Epilepsy &amp; behavior : E&amp;B
2025

Polymicrogyria in infants with symptomatic congenital cytomegalovirus at birth is associated with epilepsy: A retrospective, descriptive cohort study.

Developmental medicine and child neurology
2025

Grey matter hypertropia in a child with recurrent seizure: A case report.

Radiology case reports
2025

Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Supratentorial Intracranial Anomalies in Myelomeningocele Patients.

Turkish neurosurgery
2024

A 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 open
2025

Lopsided brain: a case of hemispheric dysplasia with cortical malformation in an infant.

Sudanese journal of paediatrics
2025

Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.

Neuropediatrics
2025

Congenital Bilateral Perisylvian Syndrome: A Rare Case.

Pediatric neurology
2025

Epileptiform 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 videotape
2024

A Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.

Cureus
2025

COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

American journal of medical genetics. Part A
2025

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Pediatric neurology
2025

PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.

Pediatric neurology
2025

Endoscopic Parasagittal Vertical Hemispherotomy: A 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2025

Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Pediatric neurology
2025

Integrating 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
2024

[Polymicrogyria associated with ADGRG1 gene variations in a child].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Pediatric neurology
2024

Seizure freedom using a regional approach to responsive neurostimulation for multifocal drug-resistant epilepsy: illustrative case.

Journal of neurosurgery. Case lessons
2024

[Malformations of cortical development: what's new?].

Medicina
2024

Laser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy.

Annals of neurology
2025

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Clinical genetics
2025

Focally Enlarged Perivascular Spaces in Pediatric and Adolescent Patients with Polymicrogyria-an MRI Study.

Clinical neuroradiology
2025

X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.

American journal of medical genetics. Part A
2024

Imagawa-Matsumoto Syndrome: The First Case From Turkey.

Noro psikiyatri arsivi
2024

Seizure outcome in drug-resistant epilepsy in the setting of polymicrogyria.

Seizure
2025

Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83  Gene.

American journal of medical genetics. Part A
2024

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

AJNR. American journal of neuroradiology
2024

Short- and long-term neurological outcomes of congenital cytomegalovirus infection.

Turkish journal of medical sciences
2024

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.

Neurogenetics
2024

A case of frontal lobe seizures with 'dancing-like' semiology.

European journal of neurology
2024

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

The Journal of clinical investigation
2024

GPR56: A potential therapeutic target for neurological and psychiatric disorders.

Biochemical pharmacology
2024

Clinical features of unilateral multilobar and hemispheric polymicrogyria (PMG)-related epilepsy and seizure outcome with different treatment options.

Epilepsia open
2024

Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study.

Epilepsia open
2024

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Cell death &amp; disease
2024

Successful Hemispherotomy in a Patient With 22q11.2 Deletion Syndrome Who Had Developmental and Epileptic Encephalopathy With Spike-and-Wave Activation During Sleep.

Cureus
2024

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.

Epileptic disorders : international epilepsy journal with videotape
2024

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Brain communications
2024

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

DNA and cell biology
2024

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Neurology. Genetics
2024

Teaching Video NeuroImage: Severe Facioglossal Weakness and Dysarthria Due to Bilateral Perisylvian Polymicrogyria.

Neurology
2024

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.

Metabolites
2024

A 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 Society
2024

PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.

Georgian medical news
2024

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Orphanet journal of rare diseases
2024

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Brain communications
2024

Cortical malformation adjacent to a large pial arteriovenous fistula.

BMJ case reports
2024

Diagnostic work-up in malformations of cortical development.

Developmental medicine and child neurology
2024

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Developmental medicine and child neurology
2024

An unusual presentation of de novo RAC3 variation in prenatal diagnosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Frontiers in pediatrics
2023

Clinicoradiological Profile of Incomplete Hippocampal Inversion Diagnosed on MR Neuroimaging.

Neurology India
2023

Shaping the brain: The emergence of cortical structure and folding.

Developmental cell
2024

Functional 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 behavior
2023

Development of neonatal-specific sequences for portable ultralow field magnetic resonance brain imaging: a prospective, single-centre, cohort study.

EClinicalMedicine
2023

Metabolic heterogeneity in different subtypes of malformations of cortical development causing epilepsy: a proton magnetic resonance spectroscopy study.

Quantitative imaging in medicine and surgery
2023

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Molecular syndromology
2023

Automatic Quantification of Normal Brain Gyrification Patterns and Changes in Fetuses with Polymicrogyria and Lissencephaly Based on MRI.

AJNR. American journal of neuroradiology
2024

PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.

Epileptic disorders : international epilepsy journal with videotape
2024

Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.

Fetal diagnosis and therapy
2024

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

American journal of medical genetics. Part A
2023

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Orphanet journal of rare diseases
2024

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

American journal of medical genetics. Part A
2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Genome medicine
2024

Navigated 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 Neurosurgery
2024

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Clinical genetics
2023

Clinical, 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 metabolism
2023

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Neurology. Genetics
2024

Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

American journal of medical genetics. Part A
2023

Chronic traumatic encephalopathy-neuropathologic change in a routine neuropathology service: 7-year follow-up.

Journal of neuropathology and experimental neurology
2024

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.

Brain : a journal of neurology
2024

Cilostazol treats transient heart failure caused by ATP1A3 variant-associated polymicrogyria.

Brain &amp; development
2023

Polymicrogyria in a patient after twin-twin transfusion syndrome.

BMJ case reports
2023

Commentary: Mania in Medically Ill Patients.

Journal of psychiatric practice
2023

Polymicrogyria: An Unusual Case of Secondary Mania.

Journal of psychiatric practice
2024

Neurosonographic and MRI diagnosis of fetal cerebral lesions heralding polymicrogyria.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Congenital Bilateral Perisylvian Polymicrogyria in Twin-Twin Transfusion Syndrome and Selective Fetal Growth Restriction.

Neurology
2023

Re-routing GPR56 signalling using Gα12/13 G protein chimeras.

Basic &amp; clinical pharmacology &amp; toxicology
2023

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Pediatric neurology
2023

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.

Brain communications
2023

X-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 Neuroscience
2024

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.

Seizure
2023

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

JAMA neurology
2023

Cell-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 Chemotherapy
2023

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

The journal of maternal-fetal &amp; 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 Obstetricians
2023

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Genes, chromosomes &amp; cancer
2023

Cobblestone-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 Neuroimaging
2023

Intrauterine Blood Transfusion for Parvo B19-Induced Fetal Anemia: Neuroimaging Findings and Long-Term Neurological Outcomes.

Fetal diagnosis and therapy
2023

Vascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case.

Journal of neurosurgery. Case lessons
2023

Exome 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 Neuroscience
2023

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.

Journal of neuromuscular diseases
2023

Atretic cephaloceles with different imaging phenotypes - Case series with review of literature.

Journal of neurosciences in rural practice
2023

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

The journal of gene medicine
2023

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.

The American journal of case reports
2023

Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

Prenatal diagnosis
2023

Congenital bilateral perislyvian syndrome: A rare case report.

Radiology case reports
2023

An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.

Stereotactic and functional neurosurgery
2023

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.

Acta obstetricia et gynecologica Scandinavica
2023

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

Genetics in medicine : official journal of the American College of Medical Genetics
2023

Downstream signalling of the disease-associated mutations on GPR56/ADGRG1.

Basic &amp; clinical pharmacology &amp; toxicology
2023

Periventricular nodular heterotopia associated with a "transmantle band sign" in patients with epilepsy.

Epilepsia
2023

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Molecular neurobiology
2023

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.

Molecular genetics &amp; genomic medicine
2023

MAPping tubulin mutations.

Frontiers in cell and developmental biology
2023

Unilateral 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 Neurophysiology
2023

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.

Ophthalmic genetics
2023

Evolution of the intracranial features of congenital cytomegalovirus on MRI.

Clinical radiology
2022

Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.

Frontiers in genetics
2022

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.

Genes
2023

TMEM161B 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 America
2023

TMEM161B modulates radial glial scaffolding in neocortical development.

Proceedings of the National Academy of Sciences of the United States of America
2022

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review.

Cureus
2023

A case of clinical worsening after stereo-electroencephalographic-guided radiofrequency thermocoagulation in a patient with polymicrogyria.

Epilepsy &amp; behavior reports
2022

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.

Molecular syndromology
2023

Identification 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 open
2023

High incidence of early thalamic lesions in the Continuous Spike-Wave related with slow Sleep (CSWS).

Epilepsy &amp; behavior : E&amp;B
2023

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.

Epilepsia open
2023

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

European journal of medical genetics
2022

Does 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations?

Seizure
2022

Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.

Frontiers in pediatrics
2023

Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.

Neuropathology : official journal of the Japanese Society of Neuropathology
2022

Schizencephaly in Hereditary Hemorrhagic Telangiectasia.

AJNR. American journal of neuroradiology
2023

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.

Journal of human genetics
2022

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

AJNR. American journal of neuroradiology
2023

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.

Brain : a journal of neurology
2022

The Genetic Landscape of Polymicrogyria.

Annals of Indian Academy of Neurology
2022

Seizure outcome determinants in children after surgery for single unilateral lesions on magnetic resonance imaging: Role of preoperative ictal and interictal electroencephalography.

Epilepsia
2022

[Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2022

Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review.

Neurobiology of disease
2022

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.

European journal of medical genetics
2022

Imaging of Congenital Malformations of the Brain.

Clinics in perinatology
2022

Reactive plasticity and synaptogenesis might correlate lesion size, leading to differences in epilepsy development in malformations of the polymicrogyria spectrum.

Seizure
2023

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Human molecular genetics
Ver todos os 452 no EuropePMC

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Ordenadas pelo número de sintomas em comum.

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.

  1. Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.
    European heart journal. Case reports· 2026· PMID 41728224mais citado
  2. The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.
    Cell death &amp; disease· 2026· PMID 41680121mais citado
  3. Diverse Genetic Etiologies of Unilateral Polymicrogyria.
    Annals of neurology· 2026· PMID 41670011mais citado
  4. Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
    Pediatric blood &amp; cancer· 2026· PMID 41579065mais citado
  5. Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
    American journal of human genetics· 2026· PMID 41544630mais citado
  6. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
    Transl Pediatr· 2026· PMID 41982962recente
  7. A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.
    Am J Med Genet A· 2026· PMID 41968386recente
  8. Fetal Sylvian Fissure Charts to Evaluate the Development of Fetal Brain using Prenatal MRI.
    Fetal Diagn Ther· 2026· PMID 41964973recente
  9. Inpatient continuous thalamic stereo-electroencephalography stimulation in the evaluation of focal epilepsy: illustrative case.
    J Neurosurg Case Lessons· 2026· PMID 41941831recente
  10. Malformations of Cortical Development.
    Neuroimaging Clin N Am· 2026· PMID 41932774recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:35981(Orphanet)
  2. MONDO:0000087(MONDO)
  3. GARD:18818(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Polimicrogiria
Compêndio · Raras BR

Polimicrogiria

ORPHA:35981 · MONDO:0000087
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0266464
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

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