Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Simone C. Yendle"'
Autor:
Sylvia Klinkenberg, Heather C Mefford, Marta A. Bayly, Pia Gellert, Rima Nabbout, Clair Pridmore, Elena Gardella, Federico Zara, Annapurna Poduri, Line H.G. Larsen, Kent Kelley, Hans Atli Dahl, Pasquale Striano, David J.A. Callen, Marjan J. A. van Kempen, Ian Andrews, Gemma L. Carvill, Bente Kragh-Olsen, Leanne M. Dibbens, Marina Nikanorova, Simone C. Yendle, Chiao Xin Lim, Nicholas J.C. Smith, Gabriel M. Ronen, Michael G. Ricos, Jacinta M McMahon, Boudewijn Gunning, Maria Giuseppina Baglietto, Sarah E. Heron, Rikke S. Møller, Ingrid E. Scheffer
Publikováno v:
ResearcherID
Møller, R S, Heron, S E, Larsen, L H G, Lim, C X, Ricos, M G, Bayly, M A, van Kempen, M J A, Klinkenberg, S, Andrews, I, Kelley, K, Ronen, G M, Callen, D, McMahon, J M, Yendle, S C, Carvill, G L, Mefford, H C, Nabbout, R, Poduri, A, Striano, P, Baglietto, M G, Zara, F, Smith, N J, Pridmore, C, Gardella, E, Nikanorova, M, Dahl, H A, Gellert, P, Scheffer, I E, Gunning, B, Kragh-Olsen, B & Dibbens, L M 2015, ' Mutations in KCNT1 cause a spectrum of focal epilepsies ', Epilepsia, vol. 56, no. 9, pp. e114-e120 . https://doi.org/10.1111/epi.13071
Epilepsia, 56(9), E114-E120. Wiley
Epilepsia, 56(9), e114. Wiley-Blackwell
Møller, R S, Heron, S E, Larsen, L H G, Lim, C X, Ricos, M G, Bayly, M A, van Kempen, M J A, Klinkenberg, S, Andrews, I, Kelley, K, Ronen, G M, Callen, D, McMahon, J M, Yendle, S C, Carvill, G L, Mefford, H C, Nabbout, R, Poduri, A, Striano, P, Baglietto, M G, Zara, F, Smith, N J, Pridmore, C, Gardella, E, Nikanorova, M, Dahl, H A, Gellert, P, Scheffer, I E, Gunning, B, Kragh-Olsen, B & Dibbens, L M 2015, ' Mutations in KCNT1 cause a spectrum of focal epilepsies ', Epilepsia, vol. 56, no. 9, pp. e114-e120 . https://doi.org/10.1111/epi.13071
Epilepsia, 56(9), E114-E120. Wiley
Epilepsia, 56(9), e114. Wiley-Blackwell
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To furth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b433f9b191c0cb22d6b4bd8b27b48419
https://doi.org/10.1111/epi.13071
https://doi.org/10.1111/epi.13071
Autor:
John A. Damiano, Eileen Geraghty, Gemma L. Carvill, Heather C Mefford, Samantha J. Turner, Adiba Khan, Robert A. Ouvrier, Ingrid E. Scheffer, Meng-Han Tsai, Jay Shendure, Samuel F. Berkovic, Brian J. O'Roak, Natalia Lozovaya, Nadine Bruneau, Michael S. Hildebrand, Brigid M. Regan, Richard Webster, Simone C. Yendle, Nail Burnashev, Pierre Szepetowski, Lynette G. Sadleir, Joseph Cook
Publikováno v:
Nature genetics
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic electroencephalogram (EEG) pattern and developmental regression particularly affecting language. Rare pathogenic deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d841d1337319052ddbf3fcfa4fdf519
http://europepmc.org/articles/PMC3868952
http://europepmc.org/articles/PMC3868952
Autor:
Rodriguez-Casero, Sophie Calvert, Ingrid E. Scheffer, Michael O. Dorschner, Sara Kivity, Simone C. Yendle, N. Zelnick, Dorit Lev, Jay Shendure, Samuel F. Berkovic, Sinéad Heavin, Steensbjerre R. Møller, Geoffrey Wallace, Ann M. E. Bye, Rachel L. Webster, Heather C Mefford, Molly Weaver, Katherine B. Howell, Stephen M. Malone, Thorsten Stanley, Brian J. O'Roak, Jeremy L. Freeman, Lynette G. Sadleir, Joseph Cook, Carvill Gl, Tally Lerman-Sagie, Andrew Bleasel, Mark T Mackay, Danielle M. Andrade, Amos D. Korczyn, Asma A. Khan
Publikováno v:
Epilepsia. 54:4-29
Purpose: Epileptic encephalopathies (EEs) are a devastating group of epilepsies characterized by refractory seizures, cognitive arrest or regression, associated with ongoing epileptic activity, and a poor prognosis. De novo mutations in a number of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4474c396476b7af4f3ab3142969a529
https://doi.org/10.1111/epi.12228
https://doi.org/10.1111/epi.12228
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Autor:
Zaid Afawi, Sophie Calvert, Heather C Mefford, Adiba Khan, Geoffrey Wallace, Deepak Gill, Dorit Lev, Nathanel Zelnick, Brian J. O'Roak, Ann M. E. Bye, Molly Weaver, Lynette G. Sadleir, Andrew Bleasel, Victoria Rodriguez-Casero, Mark T Mackay, Joseph Cook, Sara Kivity, Thorsten Stanley, Stephen M. Malone, Ingrid E. Scheffer, Simone C. Yendle, Jacinta M McMahon, Richard Webster, Tally Lerman-Sagie, Katherine B. Howell, Jay Shendure, Gemma L. Carvill, Samuel F. Berkovic, Jeremy L. Freeman, Danielle M. Andrade, Amos D. Korczyn, Rikke S. Møller, Sinéad Heavin, Michael O. Dorschner
Publikováno v:
Nature genetics
Carvill, G L, Heavin, S B, Yendle, S C, McMahon, J M, O'Roak, B J, Cook, J, Khan, A, Dorschner, M O, Weaver, M, Calvert, S, Malone, S, Wallace, G, Stanley, T, Bye, A M E, Bleasel, A, Howell, K B, Kivity, S, Mackay, M T, Rodriguez-Casero, V, Webster, R, Korczyn, A, Afawi, Z, Zelnick, N, Lerman-Sagie, T, Lev, D, Møller, R S, Gill, D, Andrade, D M, Freeman, J L, Sadleir, L G, Shendure, J, Berkovic, S F, Scheffer, I E & Mefford, H C 2013, ' Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 ', Nature Genetics, vol. 45, no. 7, pp. 825-830 . https://doi.org/10.1038/ng.2646
Carvill, G L, Heavin, S B, Yendle, S C, McMahon, J M, O'Roak, B J, Cook, J, Khan, A, Dorschner, M O, Weaver, M, Calvert, S, Malone, S, Wallace, G, Stanley, T, Bye, A M E, Bleasel, A, Howell, K B, Kivity, S, Mackay, M T, Rodriguez-Casero, V, Webster, R, Korczyn, A, Afawi, Z, Zelnick, N, Lerman-Sagie, T, Lev, D, Møller, R S, Gill, D, Andrade, D M, Freeman, J L, Sadleir, L G, Shendure, J, Berkovic, S F, Scheffer, I E & Mefford, H C 2013, ' Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 ', Nature Genetics, vol. 45, no. 7, pp. 825-830 . https://doi.org/10.1038/ng.2646
Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of which the majority are of unknown etiology. We perform targeted massively parallel resequencing of 19 known and 46 candidate genes for epileptic encephalopathy i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79325aaac508ea99ddaf3287cceab2f2
http://europepmc.org/articles/PMC3704157
http://europepmc.org/articles/PMC3704157
Autor:
Samuel F. Berkovic, David R. Thorburn, L. Hamiwka, Arvid Suls, Heather C Mefford, P. De Jonghe, Leanne M. Dibbens, B. Appleton, Todor Arsov, Mark T Mackay, Elaine C. Wirrell, Simone C. Yendle, Ingrid E. Scheffer, Tommy Stödberg, Thierry Bienvenu, Jeremy L. Freeman, Kent Kelley, Jacinta M McMahon, John C. Mulley, D. Carranza Rojo
Publikováno v:
Neurology
Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). Methods: Fifteen unrelated children with MPSI were screened for mutations in genes associated with in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5505529999beb05557f80acb3720b784
https://doi.org/10.1212/wnl.0b013e318227046d
https://doi.org/10.1212/wnl.0b013e318227046d
Autor:
Sanjay M. Sisodiya, Mary B. Davis, Richard Appleton, J. Helen Cross, Shelagh J.M. Smith, Rachael Ellis, Joan Liu, Vaneesha Gibbons, Ioannis Liagkouras, Cathy E. Woodward, Sameer M. Zuberi, Susannah T. Bellows, Lillian Martinian, Thomas S. Jacques, Ingrid E. Scheffer, Claudia B. Catarino, Robyn Labrum, Matthias J. Koepp, Jacinta M McMahon, Maria Thom, Simone C. Yendle
Publikováno v:
Brain
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52cce4d5704690bd22554558059fbdb0
http://europepmc.org/articles/PMC3187538
http://europepmc.org/articles/PMC3187538
Autor:
Samuel F. Berkovic, Philip Holmgren, Dirk Goossens, Jurgen Del-Favero, T Van Dyck, Berten Ceulemans, Kristien Verhaert, Lieven Lagae, Ingrid E. Scheffer, Albena Jordanova, Anna Jansen, Arvid Suls, Liesbet Deprez, P. De Jonghe, Simone C. Yendle, R. Van Coster, Sarah Weckhuysen
Publikováno v:
Neurology
ResearcherID
ResearcherID
Objectives: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently been identified in Ohtahara syndrome, an epileptic encephalopathy with very early onset. In order to explore the phenotypic spectrum associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d1d8d514bc8605e6877b5a30f3fd6c
https://doi.org/10.1212/wnl.0b013e3181f4d7bf
https://doi.org/10.1212/wnl.0b013e3181f4d7bf
Autor:
Thierry Bienvenu, Geoffrey Wallace, A. S. Harvey, Karl Martin Klein, J. H. Antony, Ingrid E. Scheffer, Simone C. Yendle
Publikováno v:
Neurology. 76:1436-1438
Recent recognition of the encephalopathy associated with CDKL5 (cyclin-dependent kinase-like 5) mutations has led to molecular diagnosis in affected girls. A characteristic progressive 3 stage electroclinical epilepsy course occurs with onset by 3 mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccb7dccc87a9df6080572539b04c4bfd
https://doi.org/10.1212/wnl.0b013e3182166e58
https://doi.org/10.1212/wnl.0b013e3182166e58
Autor:
Yeh Sze Ong, Sarah E. Heron, Leanne M. Dibbens, Jacinta M McMahon, Simone C. Yendle, Samuel F. Berkovic, Ingrid E. Scheffer
Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46e04d243102ddef29d5769a3b7abeb
https://hdl.handle.net/1959.8/154183
https://hdl.handle.net/1959.8/154183
Autor:
Sarah von Spiczak, Nadia Boutry-Kryza, Philip Holmgren, Rik Hendrickx, Julitta de Bellescize, Deepak Gill, Kenou Van Rijckevorsel, Anna Jansen, Helle Hjalgrim, Sarah Weckhuysen, Arvid Suls, Ingo Helbig, Catherine Godfraind, Gaetan Lesca, Christian Korff, D. Hasaerts, Rikke S. Møller, Charlotte Dielman, Ingrid E. Scheffer, Peter De Jonghe, Simone C. Yendle, Laura L. Klitten
Publikováno v:
Epilepsia, Vol. 54, No 5 (2013) pp. e74-80
S, W, P, H, R, H, A, J, Møller, R S & Hjalgrim, H 2013, ' Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers ', Epilepsia, vol. 54, no. 5, pp. e74-e80 . https://doi.org/10.1111/epi.12124
Epilepsia
S, W, P, H, R, H, A, J, Møller, R S & Hjalgrim, H 2013, ' Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers ', Epilepsia, vol. 54, no. 5, pp. e74-e80 . https://doi.org/10.1111/epi.12124
Epilepsia
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c085243c07b5e3107dad68e7c3244521
https://archive-ouverte.unige.ch/unige:34839
https://archive-ouverte.unige.ch/unige:34839