Genomes and Genes
nervous system malformations
Summary: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Publications232 found, 100 shown here
- Lissencephaly and the molecular basis of neuronal migrationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 12:R89-96. 2003..We also hypothesize, for the first time, a relationship between the specific type of lissencephaly observed and deficiency of specific modes of neuronal migration...
- [Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex]B Ertl-Wagner
Institut fur Klinische Radiologie, Klinikum der Universitat Munchen, Grosshadern, Munchen
Radiologe 43:915-24. 2003..This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development...
- [Pediatric neuroimaging: A domain in full expansion]C Adamsbaum
J Radiol 87:1619. 2006
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice
Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
Lancet Neurol 12:1159-69. 2013..The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials...
- An autoimmune disease prevented by anti-retroviral drugsGabriele B Beck-Engeser
Department of Microbiology and Immunology, University of California, San Francisco, CA 94143 0414, USA
Retrovirology 8:91. 2011..However, inhibition of reverse transcription by the inhibitor zidovudine (AZT) did not ameliorate the disease, weakening the link to retroelements...
- Stromal-derived factor-1 (CXCL12) regulates laminar position of Cajal-Retzius cells in normal and dysplastic brainsMercedes F Paredes
Department of Neurosurgery, University of California, San Francisco, California 94143, USA
J Neurosci 26:9404-12. 2006....
- Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasiaDelphine Rocas
Hospices Civils de Lyon, Service de Genetique, F 69677 Bron, France
Eur J Med Genet 56:270-3. 2013..This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus...
- Type I interferonopathies: a novel set of inborn errors of immunityYanick J Crow
Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom
Ann N Y Acad Sci 1238:91-8. 2011....
- Crystal structures of RNase H2 in complex with nucleic acid reveal the mechanism of RNA-DNA junction recognition and cleavageMonika P Rychlik
Laboratory of Protein Structure, International Institute of Molecular and Cell Biology, 4 Trojdena Street, 02 109 Warsaw, Poland
Mol Cell 40:658-70. 2010..Junction recognition is important for the removal of RNA embedded in DNA and may play an important role in DNA replication and repair...
- Callosal morphology in Williams syndrome: a new evaluation of shape and thicknessEileen Luders
Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 7334, USA, and IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy
Neuroreport 18:203-7. 2007..Circumscribed structural alterations in callosal morphology might be candidate anatomic substrates for the unique cognitive and behavioral profile associated with Williams syndrome...
- Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionHolger Thiele
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany
Hum Mutat 31:E1836-50. 2010..The observed vascular changes most likely reflect a vasculitis caused by dysregulated inflammatory stress response...
- Impaired detection of variable duration embedded tones in ectopic NZB/BINJ miceA M Peiffer
Department of Psychology, Behavioral Neuroscience Division, University of Connecticut, 3107 Horse Barn Hill Rd. Unit 4154, Storrs, CT 06269-4154, USA
Neuroreport 12:2875-9. 2001..The current results add further support to the association between focal cortical malformations and impaired auditory processing, and the notion that these auditory effects may occur regardless of the cortical location of the anomaly...
- Cognitive functioning in humans with mutations of the PAX6 geneP J Thompson
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK
Neurology 62:1216-8. 2004....
- A developmental and genetic classification for malformations of cortical developmentA J Barkovich
Department of Radiology, University of California, San Francisco, CA, USA
Neurology 65:1873-87. 2005..This classification allows a better conceptual understanding of the disorders, and the use of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathology-based classifications...
- Doublecortin is required in mice for lamination of the hippocampus but not the neocortexJoseph C Corbo
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
J Neurosci 22:7548-57. 2002..Behavioral tests show defects in context and cued conditioned fear tests, suggesting that deficits in hippocampal learning accompany the abnormal cytoarchitecture...
- Therapies in Aicardi-Goutières syndromeY J Crow
Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK St Mary s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
Clin Exp Immunol 175:1-8. 2014..We then discuss the pathogenesis of AGS from a molecular and cell biology perspective. Finally, we suggest possible treatment strategies in light of these emerging insights...
- Malformations of cortical development with balloon cells: clinical and radiologic correlatesM T Mackay
Royal Children s Hospital, Victoria, Australia
Neurology 60:580-7. 2003..The authors compare the clinical and MRI characteristics in children with medically refractory localization-related epilepsy who were found to have balloon cells on histology after cortical resections...
- Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutantG D Rosen
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
Cereb Cortex 23:859-72. 2013..The discovery of a novel mutation with strong pleiotropic anatomical and behavioral effects provides an important new resource for dissecting molecular mechanisms and functional consequences of errors of neuronal migration...
- De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotypeEmilia Cirillo
Department of Pediatrics, Federico II University, Naples, Italy
Am J Med Genet A 158:2571-6. 2012..After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age...
- PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansS M Sisodiya
Epilepsy Research Group, University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Nat Genet 28:214-6. 2001....
- Terminology and classification of the cortical dysplasiasA Palmini
Pontificia Universidade Catolica do Rio Grande do Sul, Porto Alegre, Brazil
Neurology 62:S2-8. 2004..There have been difficulties in achieving a uniform terminology in the literature regarding issues of classification with respect to focal cortical dysplasias (FCDs) associated with epilepsy...
- Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformationsM E Ross
Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA
Neuropediatrics 32:256-63. 2001....
- Fetal central nervous system malformations on MR imagesIzabela Herman-Sucharska
MRI Unit, Radiology Department of Collegium Medicum of Jagiellonian University, Kopernika Street, 19 Kraków, Poland
Brain Dev 31:185-99. 2009..The authors describe the most common anomalies of CNS revealed by fetal MRI in a chronological way related to the age of pregnancy, with a review of own MR images and with reference to the literature and own experience...
- Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literatureM Rossi
Clinical Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, University College London, London, UK
Neuropediatrics 34:287-92. 2003....
- NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsWeining Lu
Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
PLoS Genet 3:e80. 2007....
- Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformationB S Chang
Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Neurology 62:1722-8. 2004..The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions...
- Inhibition of SRC family kinases and non-classical protein kinases C induce a reeler-like malformation of cortical plate developmentYves Jossin
University of Louvain Medical School, Developmental Genetics Unit, GEDE 7382, B1200 Brussels, Belgium
J Neurosci 23:9953-9. 2003..Our observations demonstrate a key role for these enzymes in radial migration to the cortical plate, possibly via interference with Reelin signaling...
- Cochlear implantation in pontine tegmental cap dysplasiaAndrea Bacciu
Department of Otolaryngology, University of Parma, Via Gramsci 14, 43100 Parma, Italy
Int J Pediatr Otorhinolaryngol 74:962-6. 2010..Cochlear implantation allowed this child to improve her quality of life, increasing her self-confidence, independence, and social integration...
- Influence of the embryonic preplate on the organization of the cerebral cortex: a targeted ablation modelY Xie
Developmental and Molecular Neuroscience Group, Neuropsychiatric Institute, University of California at Los Angeles, School of Medicine, Los Angeles, California 90024 1759, USA
J Neurosci 22:8981-91. 2002....
- Multiple dose-dependent effects of Lis1 on cerebral cortical developmentMichael J Gambello
Department of Pediatrics and Medicine, University of California, San Diego, La Jolla, California 92093 0627, USA
J Neurosci 23:1719-29. 2003..These studies reveal the importance of LIS1 levels in orderly cerebral cortical morphogenesis and suggest new insights into the pathogenesis of type I lissencephaly...
- Focal cortical dysplasias: MR imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsyNadia Colombo
Department of Neuroradiology, Ospedale Ca Granda Niguarda, Milano, Italy
AJNR Am J Neuroradiol 24:724-33. 2003..The aim of this study was to identify the MR features of histologic subtypes of FCD that would be useful for differential diagnosis...
- A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascinKrishnakumar Kizhatil
Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, North Carolina 27710, USA
J Neurosci 22:7948-58. 2002..The finding that doublecortin associates with FIGQY-phosphorylated neurofascin provides the first connection of doublecortin with the plasma membrane and could be important for a function of doublecortin in directing neuronal migration...
- Pathfinding errors of corticospinal axons in neural cell adhesion molecule-deficient miceBettina Rolf
Zentrum für Molekulare Neurobiologie, Universitat Hamburg, D 20246 Hamburg, Germany
J Neurosci 22:8357-62. 2002..Our observations thus demonstrate a critical role of NCAM for the formation of this major axon tract...
- L1-associated diseases: clinical geneticists divide, molecular geneticists uniteE Fransen
Department of Medical Genetics, University of Antwerp, Belgium
Hum Mol Genet 6:1625-32. 1997..The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym CRASH syndrome...
- Developmental timeframes for induction of microgyria and rapid auditory processing deficits in the ratSteven W Threlkeld
Department of Psychology, Behavioral Neuroscience Division, University of Connecticut, 806 Babbidge Road, Storrs, CT 06269 4154, USA
Brain Res 1109:22-31. 2006....
- Genetics of the polymicrogyria syndromesA Jansen
Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
J Med Genet 42:369-78. 2005....
- Sex differences in rapid auditory processing deficits in ectopic BXSB/MpJ miceAnn M Peiffer
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, USA
Neuroreport 13:2277-80. 2002....
- Human wild-type tau interacts with wingless pathway components and produces neurofibrillary pathology in DrosophilaGeorge R Jackson
Neurogenetics Program, Department of Neurology, University of California Los Angeles, School of Medicine, 710 Westwood Plaza, 90095, USA
Neuron 34:509-19. 2002..The genetic system we have established provides a powerful reagent for identification of novel modifiers of tau-induced neurodegeneration that may serve as future therapeutic targets...
- Genetic malformations of the cerebral cortex and epilepsyRenzo Guerrini
Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
Epilepsia 46:32-7. 2005..2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21...
- Activity of adenosine deaminase in mothers who have conceived a fetus with central nervous system malformationsYaprak Engin-Ustun
Department of Obstetrics and Gynecology, School of Medicine, Inonu University, Malatya, Turkey
J Perinat Med 35:399-402. 2007..To establish the adenosine deaminase (ADA) activity in women who had been pregnant with a child suffering from central nervous system (CNS) anomaly...
- Bilateral frontal polymicrogyria: a newly recognized brain malformation syndromeR Guerrini
Division of Neurology, King s College, University of London, UK
Neurology 54:909-13. 2000..We describe 13 patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus: bilateral frontal polymicrogyria (BFP)...
- LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformationD T Pilz
Department of Human Genetics, University of Chicago, 924 East 57th Street, R113, Chicago, IL 60637, USA
Hum Mol Genet 7:2029-37. 1998..The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration...
- Mosaic mutations of the LIS1 gene cause subcortical band heterotopiaF Sicca
Division of Child Neurology and Psychiatry, University of Pisa, Italy
Neurology 61:1042-6. 2003..The authors identified mosaic mutations of LIS1 in two patients (Patients 1 and 2) with predominantly posterior SBH...
- Disregulated RhoGTPases and actin cytoskeleton contribute to the migration defect in Lis1-deficient neuronsStanislav S Kholmanskikh
Department of Neurology, University of Minnesota, Minneapolis, Minnesota 55455, USA
J Neurosci 23:8673-81. 2003..This effect of Lis1 on GTPases does not appear to occur through direct Lis1 binding of Rho, but could involve Lis1 effects on Rho modulatory proteins or on microtubule dynamics...
- Brain weight differences associated with induced focal microgyriaAnn M Peiffer
Department of Psychology Behavioral Neuroscience Division, University of Connecticut, USA
BMC Neurosci 4:12. 2003..In this experiment, we investigated changes in brain weight as an index of global disruption of neural systems caused by focal damage to the developing cortical plate...
- Congenital anomalies in children with cerebral palsy: a population-based record linkage studyJudith Rankin
Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK
Dev Med Child Neurol 52:345-51. 2010....
- Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomaliesE H Sherr
Department of Neurology, University of California, San Francisco, CA 94143 0748, USA
Neurology 65:1496-8. 2005..Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations...
- High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformationsRoxana Kariminejad
Kariminejad Najmabadi Pathology and Genetics Center, Tehran, Iran
Hum Mutat 32:1427-35. 2011....
- A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaVincent Procaccio
Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
Am J Hum Genet 78:947-60. 2006..These findings suggest that mutations in nonmuscle actins may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia...
- Reading impairment in the neuronal migration disorder of periventricular nodular heterotopiaB S Chang
Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
Neurology 64:799-803. 2005....
- Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literatureBeate Winner
Department of Neurology, University of Regensburg, Regensburg, Germany
Clin Neurol Neurosurg 108:692-8. 2006..Thin CC and peripheral neuropathy often appear together in spastic paraplegia and might be indicative for combined degeneration mechanism of central and peripheral axons...
- Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndromeS Buoni
Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
Neurology 63:1539-40. 2004
- Imaging of early brain injury and cortical plasticityIngeborg Krageloh-Mann
Department of Paediatric and Developmental Neurology, University Children s Hospital Tubingen, 72076 Tubingen, Germany
Exp Neurol 190:S84-90. 2004..The visual system seems to have limited compensatory potential...
- Expression and cellular distribution of high- and low-affinity neurotrophin receptors in malformations of cortical developmentEleonora Aronica
Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Acta Neuropathol 108:422-34. 2004..Further research is necessary to investigate how activation of these specific receptors could contribute to the development and the epileptogenicity of these developmental disorders...
- Surgical treatment of temporoparietooccipital cortical dysplasia in infants: report of two casesRoy Thomas Daniel
Department of Neurosurgery, Centre Hospitalier Universitaire Vauduois, Lausanne, Switzerland
Epilepsia 45:872-6. 2004..Experience with surgical treatment of these lesions is limited, often not very encouraging, and holds a higher operative risk when compared with that in older children and adults...
- Expression of neural stem cell surface marker CD133 in balloon cells of human focal cortical dysplasiaZhong Ying
Department of Neurology, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Epilepsia 46:1716-23. 2005..A few patients with CD have balloon cells intermixed with dysmorphic neurons. The cellular characteristics of balloon cells remain unknown. This study was intended to determine further the cellular characteristics of balloon cells...
- Functional imaging of the double cortexRichard Wennberg
Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada
Can J Neurol Sci 31:254-6. 2004
- [Schizencephaly--clinical and radiological presentation of pediatric patients]Ilona Kopyta
Z Katedry i Kliniki Pediatrii i Neurologii Wieku Rozwojowego Slaskiej Akademii Medycznej, Katowice
Wiad Lek 59:471-6. 2006..The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly...
- Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestationsFabienne Giuliano
Unite de Genetique Medicale, hopital l Archet II, Nice, France
Am J Med Genet A 126:99-103. 2004..The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy...
- POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DGD S Kim
Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan
Neurology 62:1009-11. 2004..Their patient expressed alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity...
- Surgery for focal cortical dysplasiaWilliam E Bingaman
Department of Neurosurgery, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Neurology 62:S30-4. 2004
- Hemispheric malformations of cortical developmentAjay Gupta
Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Neurology 62:S20-6. 2004..In this article, the authors discuss the developmental and genetic mechanisms, pathologic features, diagnosis, and treatment of hemispheric MCD that are substrates of catastrophic childhood epilepsy amenable to surgical treatment...
- Focal malformations of cortical developmentN Foldvary-Schaefer
Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Neurology 62:S14-9. 2004
- [MR imaging in congenital disorders of the brain]B Ertl-Wagner
Institut fur Klinische Radiologie, Campus Grosshadern, Ludwig Maximilians Universitat, Marchioninistrasse 15, 81377 Munich
Nervenarzt 77:1521-35; quiz 1536. 2006..Chiari malformation ans disorders on the Dandy-Walker spectrum are relatively common, primarily infratentorial disorders. Rarer infratentorial disorders are Joubert syndrome, rhombencephalosynapsis and Lhermitte Duclos syndrome...
- Mcm2 labelling of balloon cells in focal cortical dysplasiaM Thom
Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK
Neuropathol Appl Neurobiol 31:580-8. 2005..Furthermore, as Mcm2 specifically identifies BC populations, this marker may be of diagnostic value in the subtyping of FCD lesions in patients with epilepsy...
- A case of congenital bilateral perisylvian syndrome due to bilateral schizencephalyK Puthenveettil Vinayan
National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Aoi ku, Shizuoka, Japan
Epileptic Disord 9:190-3. 2007..We hypothesize that the minimal loss of cortical tissue, along with the possible sparing of vital white matter association fibers and neuronal plasticity might have contributed to the better functional outcome in this patient...
- Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyriaJorge G Burneo
Epilepsy Programme, London Health Sciences Center, University of Western Ontario, 339 Windermere Road, London, Ontario, Canada N6A 5A5
Epilepsy Res 62:125-33. 2004..The present descriptive study analysis the electroclinical and magnetoencephalographic findings of patients with epilepsy and polymicrogyria without schizencephaly...
- Congenital perisylvian syndrome: MRI and glucose PET correlationsAimee F Luat
The Carman and Ann Adams Department of Pediatrics, Childrens Hospital of Michigan, Wayne State University, Detroit, Michigan 48201, USA
Pediatr Neurol 35:21-9. 2006....
- Are cytomegalic neurons and balloon cells generators of epileptic activity in pediatric cortical dysplasia?Carlos Cepeda
Mental Retardation Research Center, David Geffen School of Medicine, University of California Los Angeles, California 90024, USA
Epilepsia 46:82-8. 2005..These aberrant cells could participate in the generation of epileptic activity. The aim of this study was to morphologically and electrophysiologically characterize cells in pediatric CD tissue...
- Adult-onset epilepsy in focal cortical dysplasia of Taylor typeA M Siegel
Epilepsy Program, Department of Neurology, University of Zurich, Switzerland
Neurology 64:1771-4. 2005..In 21 patients (10%), age at seizure onset ranged from 18 to 55 years (mean 25.3). The outcome of seizures in patients with FCDT and adult-onset epilepsy seems favorable vs childhood-onset seizures...
- Imaging the developing epileptic brainP Ellen Grant
Massachusetts General Hospital, Department of Neuroradiology, Boston, Massachusetts 02114, USA
Epilepsia 46:7-14. 2005..This article presents a brief comparison of imaging techniques currently in use, both clinically and experimentally, to diagnose, treat, and increase our understanding of the neuropathology of epilepsy in the developing brain...
- Pediatric cortical dysplasia: correlations between neuroimaging, electrophysiology and location of cytomegalic neurons and balloon cells and glutamate/GABA synaptic circuitsC Cepeda
Division of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
Dev Neurosci 27:59-76. 2005....
- Perisylvian polymicrogyria in Landau-Kleffner syndromePeter Huppke
Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany
Neurology 64:1660. 2005
- Cochlear implantation in a patient with Perisylvian syndromeWendy Smith
The Emmeline Centre, Cambridge, UK
Cochlear Implants Int 8:117-21. 2007..The method to determine whether the hearing loss is of cochlear or central origin and the progress of a child with Perisylvian syndrome who received a cochlear implant is discussed...
- Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 childrenM Henneke
Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
Neurology 64:1411-6. 2005..To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins...
- Intrinsic epileptogenicity in polymicrogyric cortex suggested by EEG-fMRI BOLD responsesE Kobayashi
Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada
Neurology 64:1263-6. 2005..Sixteen of 18 studies showed responses, with maximum activation involving the lesion in 61.5%, but often limited to a small fraction of that lesion, suggesting intrinsic epileptogenicity in small areas of the PMG cortex...
- Cortical/subcortical BOLD changes associated with epileptic discharges: an EEG-fMRI study at 3 TPaolo Federico
Brain Research Institute, Heidelberg West, Victoria, Australia
Neurology 64:1125-30. 2005..Interictal discharges in malformations of cortical development were studied with EEG-fMRI...
- A multilayered approach to studying cortical malformations: EEG-fMRIJohn A Detre
Neurology 64:1108-10. 2005
- Clinical outcomes after corpus callosotomy in patients with bihemispheric malformations of cortical developmentKensuke Kawai
Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
J Neurosurg 101:7-15. 2004..Corpus callosotomy has been advocated as a treatment option, but the results have been reported only in several case reports. The authors describe a series of 10 patients with bihemispheric MCDs who underwent total corpus callosotomy...
- Pten regulates neuronal arborization and social interaction in miceChang Hyuk Kwon
Kent Waldrep Foundation Center for Basic Neuroscience Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
Neuron 50:377-88. 2006..Thus, our data suggest that abnormal activation of the PI3K/AKT pathway in specific neuronal populations can underlie macrocephaly and behavioral abnormalities reminiscent of certain features of human ASD...
- A familial syndrome of unilateral polymicrogyria affecting the right hemisphereB S Chang
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Neurology 66:133-5. 2006..Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin...
- Site-specific dephosphorylation of doublecortin (DCX) by protein phosphatase 1 (PP1)Anat Shmueli
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
Mol Cell Neurosci 32:15-26. 2006....
- Advanced MR imaging of cortical dysplasia with or without neoplasm: a report of two casesJay J Pillai
Department of Radiology, The Medical College of Georgia, Augusta, GA 30912, USA
AJNR Am J Neuroradiol 23:1686-91. 2002....
- Cortical periventricular heterotopia with ectodermal dysplasiaR Zannolli
Am J Med Genet 113:385-9. 2002
- Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor-type focal cortical dysplasiaEleonora Aronica
Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Epilepsia 44:785-95. 2003..Because recent studies indicate that metabotropic glutamate receptor subtypes (mGluRs) play a role in epileptogenesis, we investigated the expression and cellular distribution pattern of mGluRs in FCD specimens...
- Increase in reelin-positive cells in the marginal zone of Pax6 mutant mouse cortexA Stoykova
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, D 37077 Gottingen, Germany
Cereb Cortex 13:560-71. 2003..Taken together, these experiments further elucidate how patterning of the forebrain by the transcription factor Pax6 regulates the specification of distinct neuronal subtypes in the cortical MZ...
- Characteristics of prolonged afterdischarges in children with malformations of cortical developmentShiro Chitoku
Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON
J Child Neurol 18:247-53. 2003..Remote afterdischarges over focal dysplastic cortex suggest aberrant cortical excitability and neural circuits...
- Malformations of cortical development and epilepsy: evaluation of 101 cases (part II)Serdal Gungor
Department of Pediatrics, Inonu University, Faculty of Medicine, Malatya, Turkey
Turk J Pediatr 49:131-40. 2007..In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MCD are variable and seem to be correlated with the extent of cortical involvement...
- Callosal anomalies in patients with spinal dysraphism: correlation of clinical and neuroimaging features with hemispheric abnormalitiesTadao Kawamura
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Neurol Res 24:463-7. 2002..Spinal dysraphism can no longer be considered a single developmental abnormality, given the frequent association of other defects...
- Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical developmentMaria Augusta Montenegro
Department of Neurology, University of Campinas, PO Box 6111, 13083 970 Campinas, Sao Paulo, Brazil
Arch Neurol 59:1147-53. 2002..There are several lines of evidence supporting the theory of a complex mechanism that involves genetic and environmental factors...
- Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout miceFrançoise Phan Dinh Tuy
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
Dev Neurosci 30:171-86. 2008..These results, in addition to characterizing the transcript diversity of an important family of genes, should facilitate further studies of compensation in Dcx-deficient mice...
- Role of intermediate progenitor cells in cerebral cortex developmentAdria Pontious
Department of Pathology, University of Washington, Seattle, WA, USA
Dev Neurosci 30:24-32. 2008..We propose that regulation of IPC genesis and amplification across developmental stages and regional subdivisions modulates laminar neurogenesis and contributes to the cytoarchitectonic differentiation of cortical areas...
- Patterns of hippocampal abnormalities in malformations of cortical developmentM A Montenegro
Department of Neurology, University of Campinas FCM Unicamp, Campinas, SP, Brazil
J Neurol Neurosurg Psychiatry 77:367-71. 2006..To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities...
- Epileptic and imaging findings in perinatal hypoxic-ischemic encephalopathy with ulegyriaFlavio Villani
Istituto Nazionale Neurologico, Via Celoria 11, Milan, Italy
Epilepsy Res 55:235-43. 2003..Drug refractoriness was an almost constant correlate of this form of symptomatic epilepsy...
- Segmentation of focal cortical dysplasia lesions using a feature-based level setO Colliot
Montreal Neurological Institute, McGill University, Montreal, Canada
Med Image Comput Comput Assist Interv 8:375-82. 2005..This new approach may become a useful tool for the presurgical evaluation of patients with intractable epilepsy...
- MRI and in situ hybridization reveal early disturbances in brain size and gene expression in the megencephalic (mceph/mceph) mouseMargarita Diez
Department of Neuroscience, Karolinska Institutet, S 171 77 Stockholm, Sweden
Eur J Neurosci 18:3218-30. 2003..These results provide an objective description of the size changes in different brain regions of the mceph/mceph mouse, and suggest that certain molecules could be involved in the early processes underlying these changes...
- Transcription of intermediate filament genes is enhanced in focal cortical dysplasiaJ P Taylor
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
Acta Neuropathol 102:141-8. 2001....
- Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic dischargesGiorgio Battaglia
Division of Experimental Neurophysiology and Epileptology, Neurological Institute C Besta, Milan, Italy
Epilepsia 47:86-97. 2006....
- Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino
Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
Brain 125:2507-22. 2002..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes...
- In vivo profiling of focal cortical dysplasia on high-resolution MRI with computational modelsOlivier Colliot
Department of Neurology and Neurosurgery and McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada
Epilepsia 47:134-42. 2006..Our purpose was to investigate the pattern of occurrence of abnormal MRI characteristics in FCD by using a set of computational models and to generate quantitative lesion profiling...
- [Cortical malformations and epilepsy: Role of MR imaging]J P Cottier
Service de Neuroradiologie, Hopital Bretonneau, CHRU, 2 boulevard Tonnelle, 37044 Tours Cedex
J Radiol 87:1621-34. 2006..An adequate classification of these malformations should help to provide to the family an appropriate counseling both in terms of genetics and outcome...
- Fetal Ethanol Effects on the Peripheral Nervous SystemMary Johnson; Fiscal Year: 2004..Our long term goal is to study the mechanism by which ethanol acts on the PNS, what components are adversely affected and what approaches may ameliorate these effects. ..
- Role of Intronic Variants Affecting Splicing in Juvenile Myoclonic EpilepsyDebra J Wolgemuth; Fiscal Year: 2010..in developing and adult brain, and recently, that Brd2-null embryos die at mid-gestation with central nervous system malformations. Further, our preliminary data show that heterozygous Brd2 mice exhibit a reduction in the number of ..
- LAMININS AND GLOMERULAR FILTRATIONJeffrey H Miner; Fiscal Year: 2013..The results of these studies will provide important new insights into laminin and basement membrane biology and lead to potential therapies for human glomerular disease involving GBM defects. ..
- BIOMEDICAL (BASIC)ALFED CHEUNG; Fiscal Year: 2009..The CCN will utilize the established Alzheimer's disease Neuroimaging Initiative (ADNI) network for efficient, uniform and high-quality brain MRI in SPRINT. ..
- Inflammation, Cardiac Sympathetic Innervation and Arrhythmic Sudden DeathRICHARD THOMAS GEORGE; Fiscal Year: 2012....
- A Model of Stem Cell-Based Treatment of HIV-Related Neurological DiseaseWalter Royal; Fiscal Year: 2011....
- Neurobehavioral Deficits in HIV/HCV Infection Pre/Post Anti-HCV TherapyCharles H Hinkin; Fiscal Year: 2012..Of particular interest is how HIV co-infection affects response to treatment. ..
- Determinants of GPCR Ciliary Localization and Effects on SignalingKIRK A MYKYTYN; Fiscal Year: 2012..abstract_text> ..
- TRANSCRIPTIONAL REGULATION BY GEMININKristen L Kroll; Fiscal Year: 2013..in early embryonic lethality in mice, while Zic1-4 mutations in humans cause a range of embryonic and nervous system malformations and neurological disorders...
- BIOMEDICAL (BASIC)David C Goff; Fiscal Year: 2009..Diagnosis of probable dementia: To screen all 7,500 participants annually for probable dementia. The objective of this proposal is to create a clinical network to recruit 1,700 SPRINT participants. ..
- BIOMEDICAL (BASIC)Jackson Wright; Fiscal Year: 2009....
- SPRINTSuzanne Oparil; Fiscal Year: 2009..abstract_text> ..
- INFORMATION CHANNELS IN THE VESTIBULAR NERVEELLENGENE PETERSON; Fiscal Year: 2000..Third, it will help us understand how head and neck reflexes are coordinated to achieve postural and visual stability in the world of constant motion. ..
- TRISOMY 16 AND NGF--EFFECTS ON CNS GENE EXPRESSIONDavid Holtzman; Fiscal Year: 1993..Studies of gene expression in the mouse model for DS may give fresh insights into the molecular pathogenesis of both AD and DS...
- MOLECULAR ANALYSIS OF ETHANOL-INDUCED OROFACIAL DEFECTSM Pisano; Fiscal Year: 1993....
- HYPERTENSION, COGNITION, AND THE BRAIN IN OLDER ADULTSSHARI WALDSTEIN; Fiscal Year: 2002..Understanding the pathogenesis of hypertension-related cognitive impairment in older adults may lead to enhanced efforts in prevention, and intervention to reduce cerebrovascular risk and improve quality of life. ..
- FUNCTIONAL ANALYSIS OF CANDIDATE GENES FOR MLS SYNDROMEIgnatia Van den Veyver; Fiscal Year: 2001..characterized by linear skin defects on head and neck, microphthalmia, retinal lesions, central nervous system malformations including agenesis of the corpus callosum, seizures, mental retardation and cardiac defects...
- SENSORY AND SYMPATHETIC EFFECTS ON INTERSTITIAL CYSTITISCHARLES BUFFINGTON; Fiscal Year: 2001....
- Posttraumatic Stress Disorder and Cardiovascular DiseaseViola Vaccarino; Fiscal Year: 2007..Efforts toward the prevention, early identification and treatment of PTSD and the identification of factors that mediate its adverse effects could reduce morbidity and mortality from CVD. ..
- Complement evasion by Borrelia burgdorferiDarrin Akins; Fiscal Year: 2007..unreadable] [unreadable]..
- Dissecting G protein signals at specific neural circuitsKimberly Scearce Levie; Fiscal Year: 2007..The mentoring and training received during this project will help the candidate achieve her career goal of an independent faculty research position. ..
- Functional Architecture of Developmental Brain DisorderBernard Chang; Fiscal Year: 2008..By combining training in these two areas, the candidate will gain the experience and skills necessary to transition to an independent career in clinical neuroscience research. [unreadable] [unreadable]..
- Regulation of Laminar Fate in Cerebral CortexRobert Hevner; Fiscal Year: 2006..If molecular fates are aEered in heterochronic or Rein mutant cortex, this would suggest that certain aspects of laminar fate can be regulated post-mitotically. ..
- SYNAPTIC PLASTICITY IN HIPPOCAMPAL EPILEPTOGENESISGary Clark; Fiscal Year: 2002..Experiments are proposed to ascertain the role of these signal transduction mechanisms in the enhanced release of excitatory transmitter by PAF receptor activation. ..
- EPILEPTOGENESIS IN THE AGED CNSPeter Patrylo; Fiscal Year: 2002..Thus, by examining synaptic reorganization within the aged CNS they may also provide insight into the basic mechanisms of epilepsy and learning and memory within the overall population. ..
- Synapase Modification /Memory Retention /Life Span ModelPeter Patrylo; Fiscal Year: 2002..abstract_text> ..
- Human Perinatal Brain Injury and Outcome: MRI AssessemntPATRICIA GRANT; Fiscal Year: 2006..The project is expected to only help the candidate establish an independent research career and to contribute to an understanding of perinatal brain injury. ..
- Peripheral and Central Mechanism of Pain in Patients with FibromyalgiaROLAND M STAUD; Fiscal Year: 2010..Either way, we will provide evidence that will characterize the role of local anesthesia, placebo analgesia, or both. Thus patients with FM and other similar pain syndromes may strongly benefit from the results of our study. ..
- DEVELOPMENTAL PATHOGENESIS OF HUMAN CORTICAL DYSPLASIAPeter Crino; Fiscal Year: 2003..Furthermore, in identifying alterations in specific genes, the relationship between FCD and mental disorders can be rendered. These analyses may point toward new avenues for therapy. ..
- Generation of Genetically Attenuated RickettsiaeAbdu Azad; Fiscal Year: 2009..The underlying hypothesis tested is whether recombinant strains with altered genes maintain their immunogenicity within mammals and provide cross protection to subsequent challenge with virulent strains. ..
- Mechanisms of Radiation-Induced Cognitive DysfunctionWilliam Brown; Fiscal Year: 2008..Such therapeutic intervention studies could potentially be performed in as little as 10 weeks. ..
- HOMOCYSTEINE AND CONGENITAL HEART DEFECTSThomas Rosenquist; Fiscal Year: 2003..abstract_text> ..
- 12th International Workshop on Ataxia-Telangiectasia and ATMRichard Gatti; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- ION CHANNEL REGULATION BY THE CYTOPLASMIC TAIL OF PDK1Seth Alper; Fiscal Year: 2005..We will search for novel interacting proteins, and prepare protein suitable for structural analysis. ..
- Sickle Red Cell K+ Transporter Genetics in S. cerevisiaeSeth Alper; Fiscal Year: 2002..3) (Provisional Aim): Time permitting, to improve, validate, and standardize growth rescue of trk1delta/trk2delta S. cerevisiae by expression in nonpermissive conditions of cDNA encoding the mammalian IK1 K(ca) channel. ..
- Integrated multidisciplinary approach for analyzing diffuse myelination disordersMargot Mayer Proschel; Fiscal Year: 2010..abstract_text> ..
- INDUCTION OF APOPTOSIS BY HIV-1 VPRVicente Planelles; Fiscal Year: 2010..We also hypothesize that ATR activation by Vpr, when allowed, will result in enhanced rate of viral replication. ..
- FUNCTIONAL ANALYSIS OF NF2 GENE MUTATIONSDavid Gutmann; Fiscal Year: 2003..Our ability to design rational therapies for schwannomas and meningiomas is dependent on an improved understanding of the mechanisms by which loss of merlin expression and function promotes tumor formation. ..
- NEUROFIBROMIN AS A NEGATIVE REGULATOR FOR ASTROCYTESDavid Gutmann; Fiscal Year: 2002....
- CNTF RECEPTORS AND NEUROPROTECTION AFTER BRAIN TRAUMAJOHN MACLENNAN; Fiscal Year: 2002..Finally, the generality of the results will be examined by similarly studying the role of CNTF receptors and CNTF in trigeminal motor neuron responses to injury (Specific Aim 5). ..
- Multimodal Neuroimaging of White Matter in AutismMartha Herbert; Fiscal Year: 2009..Our study design will also detect alternate outcomes and will yield data relevant for multiple levels of translational research. ..
- PKA modulation of hedgehog: a mouse medulloblastoma modelJames Waschek; Fiscal Year: 2009..abstract_text> ..
- ANGIOTENSIN AND CENTRAL NEUROHUMORAL ACTIVATION IN CHFRobert Felder; Fiscal Year: 2005..This work will provide new information concerning the role of the central nervous system in the pathophysiology of CHF and will draw attention to the possibility of CNS directed drug therapy for heart failure. ..
- Gene expression in epileptic cortical dysplasiasImad Najm; Fiscal Year: 2004..This is a unique opportunity to screen large numbers of genes that may be involved in epileptogenesis using samples which are electrophysiologically and pathologically well defined. ..
- Oligodendrocyte generation during iron deficiencyMargot Mayer Proschel; Fiscal Year: 2005..abstract_text> ..
- Normal Human and Schizophrenic BrainManuel Casanova; Fiscal Year: 2004..Another possible outcome is that the number of minicolumns in the temporal lobe may differ without a concomitant change in the structural reorganization. ..
- Working Memory and Brain Morphology in Dyslexia and ADHDMICHELLE KIBBY; Fiscal Year: 2006..Furthermore, earlier diagnosis will allow for earlier placement into intervention, and early intervention has been linked with better treatment outcome than intervention started later. [unreadable] [unreadable] [unreadable]..
- NEURONAL MIGRATION IN THE DEVELOPING BRAINHuaiyu Hu; Fiscal Year: 2003....
- Molecular Studies of Brain MalformationsHuaiyu Hu; Fiscal Year: 2007....
- MOLECULAR PHYSIOLOGY OF BAND 3 LIKE PROTEINS OF KIDNEYSeth Alper; Fiscal Year: 2007..5. Define aspects of transcriptional and translational regulation of AE gene products in kidney of mutant and parental mouse strains and in cultured kidney cells. ..
- BRAIN STRUCTURE/FUNCTION IN OROFACIAL CLEFTING DISORDERSPeggy Nopoulos; Fiscal Year: 2003..This award will also provide the candidate with the background necessary for ongoing research and funding leading to an independent research career. ..
- A Simple Measure for Studying Sensory Gating DeficitsNeal Swerdlow; Fiscal Year: 2007..abstract_text> ..
- Neurotoxic Interactions of Different Forms of MercuryBernard Weiss; Fiscal Year: 2007..The acquisition of these data offers a firm foundation for determining the risks to neurobehavioral development of concurrent exposures to both mercury species. ..
- Tumor Suppressors in LymphocytesMatthias Wabl; Fiscal Year: 2008..Subsequently, a subset of them will be further characterized and the nature of their cooperation with other oncogenes (co-mutations) will be determined. ..
- Genetic Analysis of Roof Plate Function in the CNSKathleen Millen; Fiscal Year: 2008....
- Stromal Stem Cells for Therapy of the GangliosidosesDouglas Martin; Fiscal Year: 2004..Kittens with the gangliosidoses will be evaluated for progression of neurological, hepatic and thymic disease. Mechanisms by which stem cell transplantation may alter the course of the gangliosidoses will be studied. ..
- RBC Ion Transporters as Hemoglobinopathy Risk ModifiersSeth Alper; Fiscal Year: 2009..The proposed experiments will increase understanding of sickle cell disease and thalassemia by providing mouse models for genetic tests of new drug therapies under development for near-term clinical testing. ..