Research Topics
Genomes and GenesSpecies | P B CrinoSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
Gene profiling in temporal lobe epilepsy tissue and dysplastic lesionsPeter B Crino
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Epilepsia 47:1608-16. 2006- Differential expression of glutamate and GABA-A receptor subunit mRNA in cortical dysplasiaP B Crino
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Neurology 56:906-13. 2001.... - Molecular pathogenesis of focal cortical dysplasia and hemimegalencephalyPeter B Crino
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
J Child Neurol 20:330-6. 2005..Enhanced activation of phospho-S6 and beta-catenin suggests two converging cell pathways that can be pivotal in the pathogenesis of focal cortical dysplasia and hemimegalencephaly... - Molecular pathogenesis of tuber formation in tuberous sclerosis complexPeter B Crino
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
J Child Neurol 19:716-25. 2004..These findings support impaired hamartin- and tuberin-mediated mTOR pathway regulation. Tubers likely form by constitutive activation of the mTOR cascade during brain development as a consequence of impaired hamartin or tuberin function... - Neurodevelopmental disorders as a cause of seizures: neuropathologic, genetic, and mechanistic considerationsPeter B Crino
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania, Philadelphia 19104, USA
Brain Pathol 12:212-33. 2002..Finally, novel techniques allowing for analysis of patterns of gene expression within single cells, including neurons, is likely to provide answers to the most vexing and important question about these lesions: Why are they epileptogenic?.. - 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.... - mTOR cascade activation distinguishes tubers from focal cortical dysplasiaMarianna Baybis
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
Ann Neurol 56:478-87. 2004..Phospho-S6 expression alone in BCs does not support mTOR cascade activation in FCD. Differential gene expression profiles in BCs and GCs supports the hypothesis that these cell types derive by distinct pathogenic mechanisms... - Differential cellular gene expression in gangliogliomaUzma Samadani
Department of Neurosurgery, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
Epilepsia 48:646-53. 2007.... 
Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complexR Kyin
Department of Neurology, PENN Epilepsy Center, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Pathol 159:1541-54. 2001..We conclude that alterations in NT4/trkB and NT3/trkC expression may contribute to tuber formation during brain development as downstream effects of the hamartin and tuberin pathway in TSC...- Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubersR White
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
Ann Neurol 49:67-78. 2001.... - Targeted gene expression analysis in hemimegalencephaly: activation of beta-catenin signalingJia Yu
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
Brain Pathol 15:179-86. 2005..Enhanced cyclin D1 and c-myc transcription likely reflects increased transcriptionally active beta-catenin due to decreased Ser33/Ser37/Thr41 phospho-beta-catenin and suggests activation of the Wnt-1/beta-catenin cascade in HMEG... - Gene expression, genetics, and genomics in epilepsy: some answers, more questionsPeter B Crino
Department of Neurology and PENN Epilepsy Center, University of Pennsylvania, 3 West Gates Bldg, 3400 Spruce St, Philadelphia, PA 19104, USA
Epilepsia 48:42-50. 2007..Identifying the contribution that each plays in epileptogenesis may help define new therapeutic targets... - Biallelic TSC gene inactivation in tuberous sclerosis complexPeter B Crino
Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
Neurology 74:1716-23. 2010..Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 phosphorylation (P-S6). Giant cells (GCs) in tubers exhibit S6 phosphorylation, suggesting cell-specific loss of TSC gene function... 
Focal brain malformations: seizures, signaling, sequencingPeter B Crino
Department of Neurology, PENN Epilepsy Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Epilepsia 50:3-8. 2009..Most importantly, however, if select focal cortical malformations result from enhanced mTOR signaling, new therapeutic antiepileptic compounds, such as rapamycin, can be designed and tested that specifically target mTOR signaling...- The tuberous sclerosis complexPeter B Crino
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
N Engl J Med 355:1345-56. 2006 - Gene expression in TUNEL-positive neurons in human immunodeficiency virus-infected brainDennis L Kolson
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
J Neurovirol 10:102-7. 2004.... - Markers of cellular proliferation are expressed in cortical tubersAllana Lee
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
Ann Neurol 53:668-73. 2003..Tubers and SEGAs exhibit a heterogeneous profile of differentiation and may share a common cellular lineage. Tubers may contain a subpopulation of newly generated cells... - Postoperative epilepsy in patients undergoing craniotomy for glioblastoma multiformeA E Telfeian
Dept of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia 19104, USA
J Exp Clin Cancer Res 20:5-10. 2001.... - Expression of ICAM-1, TNF-alpha, NF kappa B, and MAP kinase in tubers of the tuberous sclerosis complexMichelle Maldonado
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Neurobiol Dis 14:279-90. 2003.... - Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytesLaura A Jansen
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
Epilepsia 46:1871-80. 2005..Here, we investigated the hypothesis that impairment of potassium uptake through astrocyte inward rectifier potassium (Kir) channels may contribute to epileptogenesis in Tsc1(GFAP)CKO mice... - The neurobiology of the tuberous sclerosis complexLeah Marcotte
Department of Neurology and PENN Epilepsy Center, 3 West Gates Bldg. 3400 Spruce St, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
Neuromolecular Med 8:531-46. 2006..This review will provide an overview of the neurobiological aspects of TSC... - Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathologyKevin C Ess
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
Glia 46:28-40. 2004.... - Developmental lineage of cell types in cortical dysplasia with balloon cellsPhillip Lamparello
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA, USA
Brain 130:2267-76. 2007..These findings provide a developmental lineage model in which balloon cells and dysplastic neurons are derived from radial glial progenitor cells... - Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy modelMichael Wong
Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
Ann Neurol 54:251-6. 2003..These findings suggest that Tsc1 inactivation in astrocytes causes dysfunctional glutamate homeostasis, leading to seizure development in TSC... - Single cell lineage analysis in human focal cortical dysplasiaYue Hua
Department of Neurology and PENN Epilepsy Center, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
Cereb Cortex 13:693-9. 2003..These results support a random X-inactivation pattern in FCD. We propose that dysplastic, 'balloon' and heterotopic neurons in FCD derive from a population of progenitor cells or post-mitotic neurons during cortical development... - The tuberous sclerosis complexKsenia A Orlova
Departments of Neurology and Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Ann N Y Acad Sci 1184:87-105. 2010..Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients... - Increased expression of the neuronal glutamate transporter (EAAT3/EAAC1) in hippocampal and neocortical epilepsyPeter B Crino
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Epilepsia 43:211-8. 2002..Upregulation of EAAT3/EAAC1 in hippocampal and neocortical epilepsy may be an important modulator of extracellular glutamate concentrations and may occur as a response to recurrent seizures in these cell types... - Focal brain malformations: a spectrum of disorders along the mTOR cascadePeter B Crino
PENN Epilepy Center, Department of Neurology, University of Pennsylvania Medical Center, 3 West Gates Bldg, 3400 Spruce St, Philadelphia, PA 19104, USA
Novartis Found Symp 288:260-72; discussion 272-81. 2007..Second, we are using gene and protein expression profile techniques to understand how mTOR activation affects the developing cortex... - Differential expression of GABA and glutamate-receptor subunits and enzymes involved in GABA metabolism between electrophysiologically identified hippocampal CA1 pyramidal cells and interneuronsAlbert E Telfeian
Department of Neurosurgery, University of Pennsylvania, Philadelphia, Pennsylvania 19104, U.S.A
Epilepsia 44:143-9. 2003..These differences may indicate potential new targets for altering the balance of inhibition and excitation in the treatment of epilepsy... - Gene expression analysis as a strategy to understand the molecular pathogenesis of infantile spasmsPeter B Crino
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Int Rev Neurobiol 49:367-89. 2002 - Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brainH L Paulson
Department of Pharmacology, University of Pennsylvania, Philadelphia 19104, USA
Ann Neurol 41:453-62. 1997..The restricted expression of ataxin-3 in certain regions, however, may influence the pattern of neurodegeneration and provide clues to the protein's function... - Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasiasKsenia A Orlova
PENN Epilepsy Center and Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
J Neuropathol Exp Neurol 69:850-63. 2010..Our results demonstrate new potential pathogenic pathways in type II FCDs and suggest biomarkers for diagnostic pathology in resected epilepsy specimens... - STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and miceKsenia A Orlova
Department of Neurology, PENN Epilepsy Center, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
J Clin Invest 120:1591-602. 2010.... - Malformations of cortical development: molecular pathogenesis and experimental strategiesPeter B Crino
Penn Epilespsy Center, Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, USA
Adv Exp Med Biol 548:175-91. 2004..The pathogenesis of MCD such as focal cortical dysplasia, hemimegalencephaly, and polymicrogyria, remains unknown. A variety of new techniques including cDNA array analysis now allow for analysis of gene expression within MCD... - Altered expression of neurotransmitter-receptor subunit and uptake site mRNAs in hemimegalencephalyMarianna Baybis
PENN Epilepsy Center, Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
Epilepsia 45:1517-24. 2004..CONCLUSIONS: Selective alterations occur in distinct neurotransmitter-receptor and -uptake sites in HMEG. Differential expression of neurotransmitter-receptor and -uptake sites in HMEG may contribute to epileptogenesis in HMEG... - Tuberous sclerosis complex: a tale of two genesRuth Nass
Neurology 70:904-5. 2008 - Effects of rapamycin on gene expression, morphology, and electrophysiological properties of rat hippocampal neuronsStephan Ruegg
Division of Clinical Neurophysiology, Department of Neurology, University Hospital Basel, Switzerland
Epilepsy Res 77:85-92. 2007.... - Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathwayHiroaki Onda
Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Mol Cell Neurosci 21:561-74. 2002..We conclude that giant cells in human tubers likely result from a complete loss of TSC2 expression and activation of an mTOR pathway during cortical development... - A multilayered approach to studying cortical malformations: EEG-fMRIJohn A Detre
Neurology 64:1108-10. 2005 - Rapamycin and tuberous sclerosis complex: from Easter Island to epilepsyPeter B Crino
Ann Neurol 63:415-7. 2008 - Bourneville and Taylor: a developing story?Peter B Crino
Ann Neurol 52:6-9. 2002 - Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya
Epilepsy Research Foundation, United Kingdom
Epileptic Disord 9:194-236. 2007..Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy... - Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5Erik G Puffenberger
Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
Brain 130:1929-41. 2007.... - Renal angiomyolipoma: long-term results after arterial embolizationNishita Kothary
Department of Radiology, New York Presbyterian Columbia Hospital, 177 Fort Washington Avenue, MHB 4 100, New York, New York, USA
J Vasc Interv Radiol 16:45-50. 2005..Selective arterial embolization of renal angiomyolipomas (AMLs) was performed to prevent hemorrhage in patients with AMLs larger than 4 cm. This study was conducted to evaluate the long-term efficacy of AML embolization...
Research Grants
- GENE EXPRESSION AND CLONALITY IN DYSPLASTIC CORTICAL NEUPeter Crino; Fiscal Year: 2002..Furthermore, by identifying altered expression of select genes, the relationship between FCD and various mental disorders can be discerned. These analyses may point toward new avenues for therapy. ..
- Molecular pathogenesis of focal cortical dysplasiasPeter B Crino; Fiscal Year: 2010..These studies provide a targeted, pathway directed strategy to identify altered protein expression, gene transcription, and gene sequence that lead to the formation of FCD and HMEG during brain development. ..
- Structural consequences of TSC gene mutations in brainPeter B Crino; Fiscal Year: 2010..These studies will provide new insights into the mechanisms leading to epilepsy, autism, and cognitive impairment in TSC. ..
- Molecular pathogenesis of focal cortical dysplasiasPeter Crino; Fiscal Year: 2007..These studies provide a targeted, pathway directed strategy to identify altered protein expression, gene transcription, and gene sequence that lead to the formation of FCD and HMEG during brain development. ..
- Gene Expression Analysis in Tuberous SclerosisPeter Crino; Fiscal Year: 2006..abstract_text> ..
- Cellular Proliferation and EpileptogenesisPeter Crino; Fiscal Year: 2004..abstract_text> ..
- 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. ..
- Structural consequences of TSC gene mutations in brainPeter Crino; Fiscal Year: 2009..These studies will provide new insights into the mechanisms leading to epilepsy, autism, and cognitive impairment in TSC. ..