15 results on '"Scheffer, I.E."'
Search Results
2. Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
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Stutterd, C.A., primary, Vanderver, A., additional, Lockhart, P.J., additional, Helman, G., additional, Pope, K., additional, Uebergang, E., additional, Love, C., additional, Delatycki, M.B., additional, Thorburn, D., additional, Mackay, M.T., additional, Peters, H., additional, Kornberg, A.J., additional, Patel, C., additional, Rodriguez-Casero, V., additional, Waak, M., additional, Silberstein, J., additional, Sinclair, A., additional, Nolan, M., additional, Field, M., additional, Davis, M.R., additional, Fahey, M., additional, Scheffer, I.E., additional, Freeman, J.L., additional, Wolf, N.I., additional, Taft, R.J., additional, van der Knaap, M.S., additional, Simons, C., additional, and Leventer, R.J., additional
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- 2022
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3. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
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Chatron, N., primary, Møller, R.S., additional, Champaigne, N.L., additional, Kuechler, A., additional, Labalme, A., additional, Baggett, L., additional, Wieczorek, D., additional, Portes, V. des, additional, Edery, P., additional, Gardella, E., additional, Scheffer, I.E., additional, Mefford, H., additional, Sanlaville, D., additional, Carvill, G.L., additional, and Lesca, G., additional
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- 2017
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4. Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis
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de Kovel, C.G.F., primary, Pinto, D., additional, Tauer, U., additional, Lorenz, S., additional, Muhle, H., additional, Leu, C., additional, Neubauer, B.A., additional, Hempelmann, A., additional, Callenbach, P.M.C., additional, Scheffer, I.E., additional, Berkovic, S.F., additional, Rudolf, G., additional, Striano, P., additional, Siren, A., additional, Baykan, B., additional, Sander, T., additional, Lindhout, D., additional, Trenité, D.G. Kasteleijn-Nolst, additional, Stephani, U., additional, and Koeleman, B.P.C., additional
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- 2010
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5. ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene
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Lunan, R.F., primary, Heron, S.E., additional, Cox, K., additional, Grinton, B.E., additional, Berkovic, S.F., additional, Scheffer, I.E., additional, Mulley, J.C., additional, and Zuberi, S.M., additional
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- 2007
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6. Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function
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Xu, R., primary, Thomas, E.A., additional, Gazina, E.V., additional, Richards, K.L., additional, Quick, M., additional, Wallace, R.H., additional, Harkin, L.A., additional, Heron, S.E., additional, Berkovic, S.F., additional, Scheffer, I.E., additional, Mulley, J.C., additional, and Petrou, S., additional
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- 2007
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7. Occipital epilepsies: identification of specific and newly recognized syndromes11Edited by Hans E. Grossniklaus, MD
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Taylor, I, primary, Scheffer, I.E, additional, and Berkovic, S.F, additional
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- 2003
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8. Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus
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Wallace, R.H., primary, Scheffer, I.E., additional, Barnett, S., additional, Richards, M., additional, Dibbens, L., additional, Desai, R.R., additional, Lerman-Sagie, T., additional, Lev, D., additional, Mazarib, A., additional, Brand, N., additional, Ben-Zeev, B., additional, Goikhman, I., additional, Singh, R., additional, Kremmidiotis, G., additional, Gardner, A., additional, Sutherland, G.R., additional, George, A.L., additional, Mulley, J.C., additional, and Berkovic, S.F., additional
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- 2001
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9. A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2
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Lopes-Cendes, I., primary, Scheffer, I.E., additional, Berkovic, S.F., additional, Rousseau, M., additional, Andermann, E., additional, and Rouleau, G.A., additional
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- 2000
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10. Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24
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Phillips, H.A., primary, Scheffer, I.E., additional, Crossland, K.M., additional, Bhatia, K.P., additional, Fish, D.R., additional, Marsden, C.D., additional, Howell, S.J.L., additional, Stephenson, J.B.P., additional, Tolmie, J., additional, Plazzi, G., additional, Eeg-Olofsson, O., additional, Singh, R., additional, Lopes-Cendes, I., additional, Andermann, E., additional, Andermann, F., additional, Berkovic, S.F., additional, and Mulley, J.C., additional
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- 1998
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11. Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development
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Eksioğlu, Y.Z., primary, Scheffer, I.E., additional, Cardenas, P., additional, Knoll, J., additional, DiMario, F., additional, Ramsby, G., additional, Berg, M., additional, Kamuro, K., additional, Berkovic, S.F., additional, Duyk, G.M., additional, Parisi, J., additional, Huttenlocher, P.R., additional, and Walsh, C.A., additional
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- 1996
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12. Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus
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Lopes-Cendes, I., primary, Phillips, H.A., additional, Scheffer, I.E., additional, Mulley, J.C., additional, Desbiens, R., additional, Andermann, E., additional, Cendes, F., additional, Verret, S., additional, Andermann, F., additional, Berkovic, S.F., additional, and Rouleau, G.A., additional
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- 1995
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13. Ictal recordings in benign partial epilepsy of childhood with centrotemporal spikes
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Harvey, A.S., primary, Jakar, P., additional, Duchowny, M.S., additional, Scheffer, I.E., additional, Bailey, C.A., additional, and Berkovic, S.F., additional
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- 1995
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14. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
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Tiong Yang Tan, Shan Zong, Jeremy L. Freeman, Daniel G. Calame, Xiaomin Dong, Ingrid E. Scheffer, Davide Vecchio, John Christodoulou, Marco Tartaglia, Francesca Clementina Radio, Nicole J Van Bergen, Susan M. White, Maria Piccione, Stefanie Eggers, Sabina Barresi, Natalie B Tan, Katherine B. Howell, Dong X., Tan N.B., Howell K.B., Barresi S., Freeman J.L., Vecchio D., Piccione M., Radio F.C., Calame D., Zong S., Eggers S., Scheffer I.E., Tan T.Y., Van Bergen N.J., Tartaglia M., Christodoulou J., and White S.M.
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Male ,0301 basic medicine ,Inflammation ,Biology ,intracranial calcification ,neuroinflammation ,Transforming Growth Factor beta1 ,03 medical and health sciences ,0302 clinical medicine ,Report ,TGF-β1 ,NRROS ,Genetics ,medicine ,Humans ,Alleles ,Genetics (clinical) ,Neuroinflammation ,Brain Diseases ,Microglia ,Macrophages ,Neurodegeneration ,neurodegeneration ,Calcinosis ,Genetic Variation ,Infant ,Neurodegenerative Diseases ,medicine.disease ,NFKB1 ,Latent TGF-beta binding protein ,HEK293 Cells ,030104 developmental biology ,medicine.anatomical_structure ,Latent TGF-beta Binding Proteins ,Immunology ,Knockout mouse ,Female ,mutation ,medicine.symptom ,Developmental regression ,030217 neurology & neurosurgery - Abstract
Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with latent transforming growth factor beta-1 (TGF- β1) and anchors it on the cell surface; this anchoring is required for activation of TGF-β1 in macrophages and microglia. We report six individuals from four families with bi-allelic variants in NRROS. All affected individuals had neurodegenerative disease with refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination. The clinical course in affected individuals began with normal development or mild developmental delay, and the onset of seizures occurred within the first year of life, followed by developmental regression. Intracranial calcification was detected in three individuals. The phenotypic features in affected individuals are consistent with those observed in the Nrros knockout mouse, and they overlap with those seen in the human condition associated with TGF-β1 deficiency. The disease-causing NRROS variants involve two significant functional NRROS domains. These variants result in aberrant NRROS proteins with impaired ability to anchor latent TGF-β1 on the cell surface. Using confocal microscopy in HEK293T cells, we demonstrate that wild-type and mutant NRROS proteins co-localize with latent TGF-β1 intracellularly. However, using flow cytometry, we show that our mutant NRROS proteins fail to anchor latent TGF-β1 at the cell surface in comparison to wild-type NRROS. Moreover, wild-type NRROS rescues the defect of our disease-associated mutants in presenting latent TGF-β1 to the cell surface. Taken together, our findings suggest that loss of NRROS function causes a severe childhood-onset neurodegenerative condition with features suggestive of a disordered response to inflammation.
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- 2020
15. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
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Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Patrick Kwan, Anthony G. Marson, Randy Stewart, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara R. Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S. Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Lynette G. Sadleir, Chontelle King, Emily Mountier, S. Hande Caglayan, Mutluay Arslan, Zuhal Yapıcı, Uluc Yis, Pınar Topaloglu, Bulent Kara, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nick Bass, Andrew McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Celia Barreto Carvalho, Eric D. Achtyes, Maria Helena Azevedo, Roman Kotov, Douglas S. Lehrer, Dolores Malaspina, Stephen R. Marder, Helena Medeiros, Christopher P. Morley, Diana O. Perkins, Janet L. Sobell, Peter F. Buckley, Fabio Macciardi, Mark H. Rapaport, James A. Knowles, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey B. Gabriel, Mark J. Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel F. Berkovic, Benjamin M. Neale, Wellcome Trust, Department of Health, Institute of Neurology, UCL, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Medical Research Council (MRC), Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Singh T., Heyne H., Byrnes A., Churchhouse C., Watts N., Solomonson M., Lal D., Heinzen E.L., Dhindsa R.S., Stanley K.E., Cavalleri G.L., Hakonarson H., Helbig I., Krause R., May P., Weckhuysen S., Petrovski S., Kamalakaran S., Sisodiya S.M., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Kwan P., Marson A.G., Stewart R., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., McKenna K., Regan B.M., Bellows S.T., Leu C., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A.F., Steinhoff B.J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C.J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A.-E., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Barisic N., Delanty N., Doherty C.P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M.S., Mancardi M.M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Tumiene B., Sadleir L.G., King C., Mountier E., Caglayan S.H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Poduri A., Shiedley B.R., Shain C., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Khankhanian P., Helbig K.L., Ellis C.A., Spalletta G., Piras F., Gili T., Ciullo V., Reif A., McQuillin A., Bass N., McIntosh A., Blackwood D., Johnstone M., Palotie A., Pato M.T., Pato C.N., Bromet E.J., Carvalho C.B., Achtyes E.D., Azevedo M.H., Kotov R., Lehrer D.S., Malaspina D., Marder S.R., Medeiros H., Morley C.P., Perkins D.O., Sobell J.L., Buckley P.F., Macciardi F., Rapaport M.H., Knowles J.A., Fanous A.H., McCarroll S.A., Gupta N., Gabriel S.B., Daly M.J., Lander E.S., Lowenstein D.H., Goldstein D.B., Lerche H., Berkovic S.F., Neale B.M., Epi25 Collaborative, YÜCESAN, EMRAH, Institute for Molecular Medicine Finland, Children's Hospital, HUS Children and Adolescents, Department of Medical and Clinical Genetics, University Management, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, and Genomics of Neurological and Neuropsychiatric Disorders
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s.berkovic@unimelb.edu.au [Epi25 Collaborative. Electronic address] ,0301 basic medicine ,GAMMA-2-SUBUNIT ,burden analysi ,DNA Mutational Analysis ,PROTEIN ,Neurodegenerative ,VARIANTS ,SUSCEPTIBILITY ,Medical and Health Sciences ,Epilepsy ,0302 clinical medicine ,2.1 Biological and endogenous factors ,EPIDEMIOLOGY ,Missense mutation ,Exome ,Aetiology ,Genetics (clinical) ,Exome sequencing ,11 Medical and Health Sciences ,seizures ,GABRG2 ,Genetics ,Genetics & Heredity ,0303 health sciences ,biology ,COMMON EPILEPSIES ,1184 Genetics, developmental biology, physiology ,sequencing ,Biological Sciences ,Epi25 Collaborative ,Phenotype ,GENOME ,epileptic encephalopathy ,burden analysis ,Neurological ,Biotechnology ,Genetic Markers ,seizure ,EEF1A2 ,Burden analysis ,epilepsy ,exome ,Article ,03 medical and health sciences ,Clinical Research ,Exome Sequencing ,Genetic variation ,medicine ,Humans ,Genetic Predisposition to Disease ,Gene ,EPILEPTIC SEIZURES ,METAANALYSIS ,030304 developmental biology ,Human Genome ,Neurosciences ,Genetic Variation ,06 Biological Sciences ,medicine.disease ,Brain Disorders ,030104 developmental biology ,Genetic marker ,DE-NOVO MUTATIONS ,Case-Control Studies ,biology.protein ,3111 Biomedicine ,Human medicine ,030217 neurology & neurosurgery - Abstract
Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared and distinct ultra-rare genetic risk factors for rare and common epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,364 controls of European ancestry. We focused on three phenotypic groups; the rare but severe developmental and epileptic encephalopathies (DEE), and the commoner phenotypes of genetic generalized epilepsy (GGE) and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy, with the strongest enrichment seen in DEE and the least in NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, while no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEE and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the top associations, including CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study confirms a convergence in the genetics of common and rare epilepsies associated with ultra-rare coding variation and highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology in the largest epilepsy WES study to date.
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- 2019
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