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[PMID]:28953922
[Au] Autor:González-Morón D; Vishnopolska S; Consalvo D; Medina N; Marti M; Córdoba M; Vazquez-Dusefante C; Claverie S; Rodríguez-Quiroga SA; Vega P; Silva W; Kochen S; Kauffman MA
[Ad] Endereço:Consultorio y laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Buenos Aires, Argentina.
[Ti] Título:Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
[So] Source:PLoS One;12(9):e0185103, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissencephaly, periventricular heterotopia and subcortical band heterotopia from Argentina. We performed Sanger and Next Generation Sequencing (NGS) of DCX, FLNA and ARX and searched for copy number variations by MLPA in PAFAH1B1, DCX, POMT1, and POMGNT1. Additionally, somatic mosaicism at 5% or higher was investigated by means of targeted high coverage NGS of DCX, ARX, and PAFAH1B1. Our approach had a diagnostic yield of 36%. Pathogenic or likely pathogenic variants were identified in 14 patients, including 10 germline (five novel) and 4 somatic mutations in FLNA, DCX, ARX and PAFAH1B1 genes. This study represents the largest series of patients comprehensively characterized in our population. Our findings reinforce the importance of somatic mutations in the pathophysiology and diagnosis of neuronal migration disorders and contribute to expand their phenotype-genotype correlations.
[Mh] Termos MeSH primário: Mutação em Linhagem Germinativa
Malformações do Desenvolvimento Cortical do Grupo II/genética
[Mh] Termos MeSH secundário: Estudos de Coortes
Variações do Número de Cópias de DNA
Feminino
Genótipo
Seres Humanos
Masculino
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico
Fenótipo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170928
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185103


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[PMID]:28427592
[Au] Autor:Hanai S; Sukigara S; Dai H; Owa T; Horike SI; Otsuki T; Saito T; Nakagawa E; Ikegaya N; Kaido T; Sato N; Takahashi A; Sugai K; Saito Y; Sasaki M; Hoshino M; Goto YI; Koizumi S; Itoh M
[Ad] Endereço:Epilepsy Center, National Center of Neurology and Psychiatry, National Institute of Neuroscience, Kodaira, Japan; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Kodaira, Japan.
[Ti] Título:Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.
[So] Source:Am J Pathol;187(5):1177-1185, 2017 May.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis. We obtained a novel somatic mutation of the MTOR gene, having approximately 11% and 7% mutation frequency in the resected brain tissues. Moreover, we revealed that the MTOR mutation resulted in hyperphosphorylation of its downstream molecules, S6 and 4E-binding protein 1, and delayed cell migration on the radial glial fiber and did not affect other cells. We suspect cell-autonomous migration arrest on the radial glial foot by the active MTOR mutation and offer potential explanations for why this may lead to cortical malformations such as HME.
[Mh] Termos MeSH primário: Epilepsia Resistente a Medicamentos/genética
Hemimegalencefalia/genética
Malformações do Desenvolvimento Cortical do Grupo II/genética
Serina-Treonina Quinases TOR/genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Epilepsia Resistente a Medicamentos/cirurgia
Eletroencefalografia
Feminino
Hemimegalencefalia/cirurgia
Seres Humanos
Lactente
Malformações do Desenvolvimento Cortical do Grupo II/cirurgia
Camundongos
Tomografia Computadorizada com Tomografia por Emissão de Pósitrons
Serina-Treonina Quinases TOR/metabolismo
Transfecção
Regulação para Cima
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.1 (MTOR protein, human); EC 2.7.1.1 (TOR Serine-Threonine Kinases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE


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[PMID]:27885945
[Au] Autor:Knerlich-Lukoschus F; Connolly MB; Hendson G; Steinbok P; Dunham C
[Ad] Endereço:Department of Neurosurgery, University Hospital of Schleswig-Holstein Campus Kiel, Germany; and.
[Ti] Título:Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.
[So] Source:J Neurosurg Pediatr;19(2):182-195, 2017 Feb.
[Is] ISSN:1933-0715
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada. Clinical data, including age of seizure onset, age at surgery, seizure type(s) and frequency, affected brain region(s), intraoperative electrocorticographic findings, and outcome defined by Engel's classification were obtained for each patient. Preoperative and postoperative MRI results were reevaluated. H & E-stained tissue sections were reevaluated by using the 2011 International League Against Epilepsy classification system and additional immunostaining for standard cellular markers (neuronal nuclei, neurofilament, glial fibrillary acidic protein, CD68). Two additional established markers of pathology in epilepsy resection, namely, CD34 and α-B crystallin, were applied. RESULTS Seven nontemporal FCD Type IIA and 7 Type B cases were included. Patients with FCD Type IIA presented with an earlier age of epilepsy onset and slightly better Engel outcome. Radiology distinguished FCD Types IIA and IIB, in that Type IIB presented more frequently with characteristic cortical alterations. Nonphosphorylated neurofilament protein staining confirmed dysplastic cells in dyslaminated areas. The white-gray matter junction was focally blurred in patients with FCD Type IIB. α-B crystallin highlighted glial cells in the white matter and subpial layer with either of the 2 FCD Type II subtypes and balloon cells in patients with FCD Type IIB. α-B crystallin positivity proved to be a valuable tool for confirming the histological diagnosis of FCD Type IIB in specimens with rare balloon cells or difficult section orientation. Distinct nonendothelial cellular CD34 staining was found exclusively in tissue from patients with MRI-positive FCD Type IIB. CONCLUSIONS Extratemporal FCD Types IIA and IIB in the pediatric age group exhibited imaging and immunohistochemical characteristics; cellular immunoreactivity to CD34 emerged as an especially potential surrogate marker for lesional FCD Type IIB, providing additional evidence that FCD Types IIA and IIB might differ in their etiology and biology. Although the sample number in this study was small, the results further support the theory that postoperative outcome-defined by Engel's classification-is multifactorial and determined by not only histology but also the extent of the initial lesion, its location in eloquent areas, intraoperative electrocorticographic findings, and achieved resection grade.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Epilepsia Resistente a Medicamentos/diagnóstico por imagem
Epilepsia Resistente a Medicamentos/patologia
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico por imagem
Malformações do Desenvolvimento Cortical do Grupo II/patologia
[Mh] Termos MeSH secundário: Encéfalo/fisiopatologia
Encéfalo/cirurgia
Criança
Pré-Escolar
Epilepsia Resistente a Medicamentos/fisiopatologia
Epilepsia Resistente a Medicamentos/cirurgia
Feminino
Seguimentos
Seres Humanos
Imuno-Histoquímica
Lactente
Monitorização Neurofisiológica Intraoperatória/métodos
Imagem por Ressonância Magnética
Masculino
Malformações do Desenvolvimento Cortical do Grupo II/fisiopatologia
Malformações do Desenvolvimento Cortical do Grupo II/cirurgia
Procedimentos Neurocirúrgicos/métodos
Estudos Prospectivos
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161126
[St] Status:MEDLINE
[do] DOI:10.3171/2016.8.PEDS1686


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[PMID]:26852695
[Au] Autor:Irwin K; Henry A; Gopikrishna S; Taylor J; Welsh AW
[Ad] Endereço:Department of Maternal Fetal Medicine, Royal Hospital for Women, Sydney, New South Wales, Australia.
[Ti] Título:Utility of fetal MRI for workup of fetal central nervous system anomalies in an Australian maternal-fetal medicine cohort.
[So] Source:Aust N Z J Obstet Gynaecol;56(3):267-73, 2016 Jun.
[Is] ISSN:1479-828X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To evaluate how fetal MRI is influencing current clinical practice and outcomes for central nervous system (CNS) anomalies in the Australian maternal-fetal medicine (MFM) setting. MATERIAL AND METHODS: Retrospective audit of cases January 2008-August 2013 referred for MFM ultrasound and MRI for suspected fetal CNS anomaly. Demographics, referral information, initial MFM diagnoses and investigations, MRI diagnoses, subsequent pregnancy management and perinatal outcome were examined. RESULTS: Fifty-seven women (41 singleton, 16 twin pregnancies) were seen at mean gestation of 23.7 ± 6.5 weeks. Major referral indications included ventriculomegaly (VM, 39%) and posterior fossa anomaly (PFA, 18%). MRI was performed at mean 27.2 ± 5.3 weeks. Diagnosis was altered from ultrasound in 31/57 cases (54%); 14 improving and 17 worsening prognosis. MRI findings worsening prognosis were more significant VM and PFA, agenesis of the corpus callosum, neuronal migration disorders and intraventricular haemorrhage. TOP or selective reduction occurred in 11 of 57 cases after full clinical workup (six where MRI worsened prognosis, five where MRI confirmed US poor prognosis). Mean gestation at birth was 37.2 ± 4.1 weeks for continuing pregnancies. There were nine cases of additional postnatal diagnoses, including four CNS anomalies. After neonatal workup, physical and/or developmental delay was anticipated for at least 14 of 43 (33%) infants. CONCLUSIONS: MRI added significant diagnostic information in about half the cases referred for workup of suspected CNS anomaly. In six of 17 cases where MRI worsened prognosis, TOP was chosen. Both additional CNS and non-CNS anomalies were diagnosed postnatally in 20%, emphasising the uncertain prognosis for, and evolution of, suspected CNS anomaly in fetuses.
[Mh] Termos MeSH primário: Encéfalo/anormalidades
Encéfalo/diagnóstico por imagem
Imagem por Ressonância Magnética
Ultrassonografia Pré-Natal
[Mh] Termos MeSH secundário: Aborto Eugênico
Agenesia do Corpo Caloso/diagnóstico por imagem
Austrália
Feminino
Idade Gestacional
Seres Humanos
Hidrocefalia/diagnóstico por imagem
Recém-Nascido
Hemorragias Intracranianas/diagnóstico por imagem
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico por imagem
Gravidez
Prognóstico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160209
[St] Status:MEDLINE
[do] DOI:10.1111/ajo.12440


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[PMID]:26018084
[Au] Autor:Nakashima M; Saitsu H; Takei N; Tohyama J; Kato M; Kitaura H; Shiina M; Shirozu H; Masuda H; Watanabe K; Ohba C; Tsurusaki Y; Miyake N; Zheng Y; Sato T; Takebayashi H; Ogata K; Kameyama S; Kakita A; Matsumoto N
[Ad] Endereço:Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[Ti] Título:Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
[So] Source:Ann Neurol;78(3):375-86, 2015 Sep.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Focal cortical dysplasia (FCD) type IIb is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, and balloon cells. It has been suggested that FCDs are caused by somatic mutations in cells in the developing brain. Here, we explore the possible involvement of somatic mutations in FCD type IIb. METHODS: We collected a total of 24 blood-brain paired samples with FCD, including 13 individuals with FCD type IIb, 5 with type IIa, and 6 with type I. We performed whole-exome sequencing using paired samples from 9 of the FCD type IIb subjects. Somatic MTOR mutations were identified and further investigated using all 24 paired samples by deep sequencing of the entire gene's coding region. Somatic MTOR mutations were confirmed by droplet digital polymerase chain reaction. The effect of MTOR mutations on mammalian target of rapamycin (mTOR) kinase signaling was evaluated by immunohistochemistry and Western blotting analyses of brain samples and by in vitro transfection experiments. RESULTS: We identified four lesion-specific somatic MTOR mutations in 6 of 13 (46%) individuals with FCD type IIb showing mutant allele rates of 1.11% to 9.31%. Functional analyses showed that phosphorylation of ribosomal protein S6 in FCD type IIb brain tissues with MTOR mutations was clearly elevated, compared to control samples. Transfection of any of the four MTOR mutants into HEK293T cells led to elevated phosphorylation of 4EBP, the direct target of mTOR kinase. INTERPRETATION: We found low-prevalence somatic mutations in MTOR in FCD type IIb, indicating that activating somatic mutations in MTOR cause FCD type IIb.
[Mh] Termos MeSH primário: Encéfalo/patologia
Malformações do Desenvolvimento Cortical do Grupo II/genética
Mutação/genética
Serina-Treonina Quinases TOR/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Células HEK293
Seres Humanos
Masculino
Malformações do Desenvolvimento Cortical/diagnóstico
Malformações do Desenvolvimento Cortical/genética
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 2.7.1.1 (MTOR protein, human); EC 2.7.1.1 (TOR Serine-Threonine Kinases)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:150821
[Lr] Data última revisão:
150821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150529
[St] Status:MEDLINE
[do] DOI:10.1002/ana.24444


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[PMID]:25962317
[Au] Autor:Dubey D; Thodeson D; Dowling M; Sirsi D; Arnold S; Said R
[Ad] Endereço:Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, Texas. Electronic address: divyanshudubey87@gmail.com.
[Ti] Título:Type II Cortical Dysplasia in Dominant Frontal Lobe Presenting as Gelastic Epilepsy.
[So] Source:Pediatr Neurol;53(1):97-8, 2015 Jul.
[Is] ISSN:1873-5150
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Epilepsias Parciais/diagnóstico
Lobo Frontal/patologia
Lobo Frontal/fisiopatologia
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico
Malformações do Desenvolvimento Cortical do Grupo II/patologia
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Eletroencefalografia
Lobo Frontal/diagnóstico por imagem
Lobo Frontal/cirurgia
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Malformações do Desenvolvimento Cortical do Grupo II/fisiopatologia
Malformações do Desenvolvimento Cortical do Grupo II/cirurgia
Tomografia Computadorizada de Emissão de Fóton Único
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1603
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150513
[St] Status:MEDLINE


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[PMID]:25499612
[Au] Autor:Sato Y; Doesburg SM; Wong SM; Okanishi T; Anderson R; Nita DA; Ochi A; Otsubo H
[Ad] Endereço:Division of Neurology, Hospital for Sick Children, Toronto, Ont., Canada.
[Ti] Título:Dynamic changes of interictal post-spike slow waves toward seizure onset in focal cortical dysplasia type II.
[So] Source:Clin Neurophysiol;126(9):1670-6, 2015 Sep.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: A post-spike slow wave (PSS) as part of a spike and slow wave is presumably related to inhibition of epileptic activity. In this study, we evaluated dynamic changes of PSS power toward seizure onset in patients with focal cortical dysplasia (FCD) type II. METHODS: We collected data from 10 pediatric patients with FCD type II, who underwent invasive monitoring with subdural grids. The PSS were averaged based on spike-triggering in 30s epochs during both interictal and preictal periods. We quantitatively measured and compared PSS power and distribution between interictal and preictal periods, both within and outside the seizure onset zone (SOZ). RESULTS: PSS power was significantly higher in all areas during preictal period compared with interictal period. During preictal period, PSS power within SOZ was significantly higher than outside SOZ. From interictal to preictal period, the number of electrodes with high power PSS significantly increased within SOZ and decreased outside SOZ. CONCLUSIONS: Toward seizure onset, PSS power increased in all areas, predominantly within SOZ, and became confined into SOZ in a subset of FCD type II patients. SIGNIFICANCE: Preictal PSS power increase and confinement into SOZ accompany transition to seizures.
[Mh] Termos MeSH primário: Potenciais de Ação
Ondas Encefálicas
Malformações do Desenvolvimento Cortical do Grupo II/diagnóstico
Malformações do Desenvolvimento Cortical do Grupo II/fisiopatologia
Convulsões/diagnóstico
Convulsões/fisiopatologia
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Adolescente
Ondas Encefálicas/fisiologia
Criança
Pré-Escolar
Eletroencefalografia/tendências
Feminino
Seres Humanos
Masculino
Malformações do Desenvolvimento Cortical do Grupo II/complicações
Estudos Retrospectivos
Convulsões/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1510
[Cu] Atualização por classe:150813
[Lr] Data última revisão:
150813
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141216
[St] Status:MEDLINE


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[PMID]:25404064
[Au] Autor:Abdijadid S; Mathern GW; Levine MS; Cepeda C
[Ad] Endereço:Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
[Ti] Título:Basic mechanisms of epileptogenesis in pediatric cortical dysplasia.
[So] Source:CNS Neurosci Ther;21(2):92-103, 2015 Feb.
[Is] ISSN:1755-5949
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cortical dysplasia (CD) is a neurodevelopmental disorder due to aberrant cell proliferation and differentiation. Advances in neuroimaging have proven effective in early identification of the more severe lesions and timely surgical removal to treat epilepsy. However, the exact mechanisms of epileptogenesis are not well understood. This review examines possible mechanisms based on anatomical and electrophysiological studies. CD can be classified as CD type I consisting of architectural abnormalities, CD type II with the presence of dysmorphic cytomegalic neurons and balloon cells, and CD type III which occurs in association with other pathologies. Use of freshly resected brain tissue has allowed a better understanding of basic mechanisms of epileptogenesis and has delineated the role of abnormal cells and synaptic activity. In CD type II, it was demonstrated that balloon cells do not initiate epileptic activity, whereas dysmorphic cytomegalic and immature neurons play an important role in generation and propagation of epileptic discharges. An unexpected finding in pediatric CD was that GABA synaptic activity is not reduced, and in fact, it may facilitate the occurrence of epileptic activity. This could be because neuronal circuits display morphological and functional signs of dysmaturity. In consequence, drugs that increase GABA function may prove ineffective in pediatric CD. In contrast, drugs that counteract depolarizing actions of GABA or drugs that inhibit the mammalian target of rapamycin (mTOR) pathway could be more effective.
[Mh] Termos MeSH primário: Encéfalo/patologia
Epilepsia/etiologia
Malformações do Desenvolvimento Cortical do Grupo II/complicações
Malformações do Desenvolvimento Cortical do Grupo II/patologia
Neurônios/fisiologia
[Mh] Termos MeSH secundário: Animais
Encéfalo/fisiopatologia
Seres Humanos
Transdução de Sinais/fisiologia
Sirolimo/metabolismo
Ácido gama-Aminobutírico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW
[Nm] Nome de substância:
56-12-2 (gamma-Aminobutyric Acid); W36ZG6FT64 (Sirolimus)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141119
[St] Status:MEDLINE
[do] DOI:10.1111/cns.12345


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[PMID]:25312583
[Au] Autor:Kostovic I; Sedmak G; Vuksic M; Judas M
[Ad] Endereço:Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
[Ti] Título:The relevance of human fetal subplate zone for developmental neuropathology of neuronal migration disorders and cortical dysplasia.
[So] Source:CNS Neurosci Ther;21(2):74-82, 2015 Feb.
[Is] ISSN:1755-5949
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The human fetal cerebral cortex develops through a series of partially overlapping histogenetic events which occur in transient cellular compartments, such as the subplate zone. The subplate serves as waiting compartment for cortical afferent fibers, the major site of early synaptogenesis and neuronal differentiation and the hub of the transient fetal cortical circuitry. Thus, the subplate has an important but hitherto neglected role in the human fetal cortical connectome. The subplate is also an important compartment for radial and tangential migration of future cortical neurons. We review the diversity of subplate neuronal phenotypes and their involvement in cortical circuitry and discuss the complexity of late neuronal migration through the subplate as well as its potential relevance for pathogenesis of migration disorders and cortical dysplasia. While migratory neurons may become misplaced within the subplate, they can easily survive by being involved in early subplate circuitry; this can enhance their subsequent survival even if they have immature or abnormal physiological activity and misrouted connections and thus survive into adulthood. Thus, better understanding of subplate developmental history and various subsets of its neurons may help to elucidate certain types of neuronal disorders, including those accompanied by epilepsy.
[Mh] Termos MeSH primário: Córtex Cerebral/embriologia
Córtex Cerebral/patologia
Malformações do Desenvolvimento Cortical do Grupo II/patologia
Malformações do Desenvolvimento Cortical/patologia
[Mh] Termos MeSH secundário: Movimento Celular/fisiologia
Seres Humanos
Neurônios/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150121
[Lr] Data última revisão:
150121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141015
[St] Status:MEDLINE
[do] DOI:10.1111/cns.12333


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[PMID]:25247689
[Au] Autor:Ramos RL; Siu NY; Brunken WJ; Yee KT; Gabel LA; Van Dine SE; Hoplight BJ
[Ad] Endereço:Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, N.Y., USA.
[Ti] Título:Cellular and axonal constituents of neocortical molecular layer heterotopia.
[So] Source:Dev Neurosci;36(6):477-89, 2014.
[Is] ISSN:1421-9859
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Human neocortical molecular layer heterotopia consist of aggregations of hundreds of neurons and glia in the molecular layer (layer I) and are indicative of neuronal migration defect. Despite having been associated with dyslexia, epilepsy, cobblestone lissencephaly, polymicrogyria, and Fukuyama muscular dystrophy, a complete understanding of the cellular and axonal constituents of molecular layer heterotopia is lacking. Using a mouse model, we identify diverse excitatory and inhibitory neurons as well as glia in heterotopia based on molecular profiles. Using immunocytochemistry, we identify diverse afferents in heterotopia from subcortical neuromodulatory centers. Finally, we document intracortical projections to/from heterotopia. These data are relevant toward understanding how heterotopia affect brain function in diverse neurodevelopmental disorders.
[Mh] Termos MeSH primário: Axônios/patologia
Malformações do Desenvolvimento Cortical do Grupo II/patologia
Neocórtex/patologia
Neuroglia/patologia
Neurônios/patologia
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Modelos Animais de Doenças
Imuno-Histoquímica
Malformações do Desenvolvimento Cortical do Grupo II/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Neocórtex/metabolismo
Neuroglia/metabolismo
Neurônios/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1507
[Cu] Atualização por classe:160212
[Lr] Data última revisão:
160212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140924
[St] Status:MEDLINE
[do] DOI:10.1159/000365100



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