Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Sophie Calvert"'
Autor:
Russell C. Dale, Terrence Thomas, Shrujna Patel, Velda X. Han, Kavitha Kothur, Christopher Troedson, Sachin Gupta, Deepak Gill, Stephen Malone, Michaela Waak, Sophie Calvert, Gopinath Subramanian, P. Ian Andrews, Tejaswi Kandula, Manoj P. Menezes, Simone Ardern‐Holmes, Shekeeb Mohammad, Sushil Bandodkar, Jingya Yan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1417-1432 (2023)
Abstract Objective Infection‐triggered encephalopathy syndromes (ITES) are potentially devastating neuroinflammatory conditions. Although some ITES syndromes have recognisable MRI neuroimaging phenotypes, there are otherwise few biomarkers of disea
Externí odkaz:
https://doaj.org/article/1c41c2d648974bcc8a098e644408d090
Autor:
Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genes, Vol 14, Iss 8, p 1565 (2023)
Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to i
Externí odkaz:
https://doaj.org/article/89718b00c75a4121b61bbb3e4d0cd75d
Autor:
Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir
Publikováno v:
Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy d
Autor:
Sian Copley, Rebecca Foulkes, Lisa Charlton, Sophie Calvert, Selina Chan, Julia Birchenough, Loveday Jago, Adnaan Kala, Andrew Fagbemi, Maureen Lawson
Publikováno v:
IBD.
Autor:
Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787
http://hdl.handle.net/11585/786787
Autor:
Lance H. Rodan, Chelsea Chambers, Sophie Calvert, Montserrat Arellano, Elisabeth Gabau, Amy L Schneider, Jacques L. Michaud, Ariane Soldatos, Nino Spataro, M. Scott Perry, Gerarda Cappuccio, Christopher Balak, Mary D. King, Alison M. Muir, Heather C Mefford, Elsa Rossignol, Katherine L. Helbig, Carsten G. Bönnemann, Ingrid E. Scheffer, Candace T. Myers, Nicola Brunetti-Pierri, Kathleen M. Gorman, Sandra Donkervoort, Alice Basinger, Fadi F. Hamdan
Publikováno v:
Epilepsia. 62
Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR
Publikováno v:
Journal of Paediatrics and Child Health. 54:918-921
Publikováno v:
European Journal of Medical Genetics. 64:104315
Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencepha
Autor:
Finbar J K O'Callaghan, Stuart W Edwards, Fabienne Dietrich Alber, Mario Cortina Borja, Eleanor Hancock, Anthony L Johnson, Colin R Kennedy, Marcus Likeman, Andrew L Lux, Mark T Mackay, Andrew A Mallick, Richard W Newton, Melinda Nolan, Ronit Pressler, Dietz Rating, Bernhard Schmitt, Christopher M Verity, John P Osborne, Maysara Abdel Aziz, Triloknath Acharya, Carolyn Adcock, Robert Jones, Rachel Howells, Ben Marsh, Kemi Adejare, Rashmi Adiga, Mary Wheater, Mansoor Ahmed, Mohammad Sawal, Chhavi Goel, MAS Ahmed, Michael Alber, Markus Wolff, Susanne Ruf, Asya Al-Kharusi, Hassan Al-Moasseb, Ruchi Arora, Richard Beach, Patricia Atkinson, Kunle Ayonrinde, Pronab Bala, Nicola Bamford, Nagi Barakat, Nigel Basheer, Peter Baxter, Santosh Mordekar, Chris Rittey, Ingo Borggraefe, Peter Borusiak, Sabine Cagnoli, Richard Brown, Sophie Calvert, Duncan Cameron, Ramesh Chaniyil, Ravi Chinthapalli, Gabriel Chow, William Whitehouse, Vinodhini Clarke, Chris Cooper, Alexane Datta, Selwyn D'Costa, Christian de Goede, Helen Basu, David Deekollu, Adela Della Marina, Penelope Dison, Colin Dunkley, Megan Eaton, Julie Ellison, Robert Pugh, Penny Fallon, Hani Faza, Imti Choonara, Richard Morton, Mal Ratnayaka, Colin Ferrie, Amanda Freeman, Stephen Warriner, Maria Garcia, Malihe Ghazavi, Frances Gibbon, John Gibbs, Des Ginbey, Iolanda Guarino, Rajesh Gupta, Mary Hanlon, Siân Harris, Paul Munyard, Cheryl Hemingway, Christin Eltze, Marios Kaliakatsos, Velayutham Murugan, Robert Robinson, Jeen Tan, Daniel Hindley, Adrian Hughes, Akmal Hussain, Greg Boden, Munir Hussain, Nahin Hussain, Lyvia Dabydeen, Kate Irwin, Julia Jacobs, Praveen Jauhari, Philip Minchom, Simon Jones, Michael Karenfort, Reinhard Keimer, Colin Kennedy, Fenella Kirkham, Andrea Whitney, Martin Kirkpatrick, Alice Jollands, Rachel Kneen, Anand Iyer, Amy McTague, Stefan Spinty, Ramesh Kumar, Gerhard Kurlemann, Matthew Lee, Eman Jurges, Robert Levy, Helen Lewis, Hilary Lewis, Andrew Lloyd Evans, Ne-Ron Loh, John Osborne, Finbar O'Callaghan, Hilary Maddicks, Thomas Luecke, Andrew Lux, Anirban Majumdar, Kayal Vijayakumar, Mark MacKay, Jeremy Freeman, Michael Hayman, Andrew Kornberg, Rick Leventer, Monique Ryan, Tyson Ware, Penny Mancais, Katina Marinaki, Albert Massarano, Satheesh Mathew, Ailsa McLellan, Colin Melville, Leena Mewasingh, Hiltrud Muhle, Eisawi Nagmeldin, Jeyashree Natarajan, Suresh Nelapatla, Jailosi Gondwe, Richard Newton, Imelda Hughes, Tim Martland, Gary McCullagh, Grace Vassallo, Stephen Nirmal, Suzanne Davis, Rakesh Patel, Cynthia Sharpe, Anas Olabi, Kevin O'Neill, Jim Gould, Axel Panzer, Manuela Theophil, Srinivas Parepalli, Frank Hinde, Martin Smith, Alasdair Parker, Manali Chitre, Sunny Philip, Rajat Gupta, Evangeline Wassmer, Mike Pike, Tony McShane, Nandhini Prakash, Beena Padmakumar, Clair Pridmore, Viola Prietsch, Peter Krieg, Ros Quinlivan, Michael Quinn, Andrew Collinson, Usha Rajalingam, Karl Rakshi, Tekki Rao, Asha Ravi, Rob Rifkin, Helen Roper, Piers Rowlandson, Lynette Sadleir, Sanjay Sahi, Arun Saraswatula, Siobhan O'Sullivan, Kethar Saravanan, Alastair Scammell, Sudhakar Rao, Susanne Schubert-Bast, David J Scott, Fraser Scott, Matthew Pye, Ayaz Shah, Elma Stephen, Shambhu Shah, Andrew Butterfill, Pauline Shute, Rajeeva Singh, Brigid Allogoa, Ravinder Singh, Gyanranjan Sinha, Puthuval Sivakumar, Robert Smith, Sivaranjini Sriskandan, Martin Steinert, Michael Strassburg, Susi Strozzi, Geeta Subramanian, Andrew Tandy
Publikováno v:
O'Callaghan, F J K, Edwards, S W, Alber, F D, Cortina Borja, M, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M T, Mallick, A A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M & Osborne, J P 2018, ' Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial ', The Lancet Child & Adolescent Health, vol. 2, no. 10, pp. 715-725 . https://doi.org/10.1016/S2352-4642(18)30244-X
BACKGROUND: Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Spasms Study (ICISS), we showed that combining vigabatrin with hormonal therapy was more effective than hormonal therapy a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3baddd3818a1f9a275daec7e4bbd79
https://eprints.soton.ac.uk/423428/
https://eprints.soton.ac.uk/423428/
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22(6)
Aim Despite antiepileptic medication and dietary treatment options available about 45% of children with epilepsy still suffer from uncontrolled seizures. Triheptanoin is an anaplerotic treatment designed to improve energy generation via the Krebs cyc