Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Julia Saykally"'
Autor:
Rikke S. Møller, Dorota Hoffman-Zacharska, Alison M. Muir, Pasquale Striano, Sarah Weckhuysen, Sarah von Spiczak, José M. Serratosa, Carla Marini, Julia Saykally, Ingo Helbig, Nancy T. Nguyen, Dana Craiu, Renzo Guerrini, Candace T. Myers, Heather C Mefford, Anna-Elina Lehesjoki, Peter De Jonghe, Katalin Štěrbová
Publikováno v:
Epilepsy research
Muir, A M, Myers, C T, Nguyen, N T, Saykally, J, Craiu, D, De Jonghe, P, Helbig, I, Hoffman-Zacharska, D, Guerrini, R, Lehesjoki, A-E, Marini, C, Møller, R S, Serratosa, J, Štěrbová, K, Striano, P, von Spiczak, S, Weckhuysen, S, Mefford, H C & EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen 2019, ' Genetic heterogeneity in infantile spasms ', Epilepsy Research, vol. 156, 106181 . https://doi.org/10.1016/j.eplepsyres.2019.106181
Epilepsy Res
Muir, A M, Myers, C T, Nguyen, N T, Saykally, J, Craiu, D, De Jonghe, P, Helbig, I, Hoffman-Zacharska, D, Guerrini, R, Lehesjoki, A-E, Marini, C, Møller, R S, Serratosa, J, Štěrbová, K, Striano, P, von Spiczak, S, Weckhuysen, S, Mefford, H C & EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen 2019, ' Genetic heterogeneity in infantile spasms ', Epilepsy Research, vol. 156, 106181 . https://doi.org/10.1016/j.eplepsyres.2019.106181
Epilepsy Res
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969089202b8acf197f3eadb7fa16d6d0
http://hdl.handle.net/10138/320960
http://hdl.handle.net/10138/320960
Autor:
Rikke S. Møller, Julia Saykally, Ingo Helbig, John Nguyen, Nicola Specchio, Jacinta M McMahon, Oriano Mecarelli, Matthew Zemel, Samuel F. Berkovic, Marina Nikanorova, Heather C. Mefford, Federico Zara, R Smith, Gemma L. Carvill, Amy L Schneider, Sarah Weckhuysen, Ingrid E. Scheffer, Angela Robbiano, Richard J. Leventer, Steven Petrou, Candace T. Myers, Petia Dimova, Pasquale Striano, Albena Jordanova
Publikováno v:
Carvill, G L, McMahon, J M, Schneider, A, Zemel, M, Myers, C T, Saykally, J, Nguyen, J, Robbiano, A, Zara, F, Specchio, N, Mecarelli, O, Smith, R L, Leventer, R J, Møller, R S, Nikanorova, M, Dimova, P, Jordanova, A, Petrou, S, Helbig, I, Striano, P, Weckhuysen, S, Berkovic, S F, Scheffer, I E, Mefford, H C & EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group 2015, ' Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures ', American Journal of Human Genetics, vol. 96, no. 5, pp. 808-815 . https://doi.org/10.1016/j.ajhg.2015.02.016
The American journal of human genetics
The American journal of human genetics
GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies
Autor:
Sophie Calvert, Amy L Schneider, Ruth Ottman, Mark I. Rees, Hugo Sampaio, Rikke S. Møller, Daniel H. Lowenstein, Stephen Petrou, Elliott H. Sherr, Erin L. Heinzen, Patrick Cossette, Seo-Kyung Chung, Julia Saykally, Gemma L. Carvill, Marina Nikanorova, Anthony G Marson, Michael P. Epstein, Matthew Zemel, David Goldstein, David Coman, Tracy A. Glauser, Samuel F. Berkovic, Jozef Gecz, Deepak Gill, Jacinta M McMahon, Ingrid E. Scheffer, Marvin Johnson, Norman Delanty, Terence J. O'Brien, Annapurna Poduri, William O. Pickrell, Tally Lerman-Sagie, Heather C Mefford, Jeremy L. Freeman, Georgina Hollingsworth, Mark A. Corbett, Andrew S. Allen, Patrick W. Carney, Evan E. Eichler, Lynette G. Sadleir, Ruben Kuzniecky, Slavé Petrovski, Candace T. Myers, Dennis J. Dlugos, Amy Lacroix
Publikováno v:
Myers, C T, McMahon, J M, Schneider, A L, Petrovski, S, Allen, A S, Carvill, G L, Zemel, M, Saykally, J E, LaCroix, A J, Heinzen, E L, Hollingsworth, G, Nikanorova, M, Corbett, M, Gecz, J, Coman, D, Freeman, J L, Calvert, S, Gill, D, Carney, P, Lerman-Sagie, T, Sampaio, H, Cossette, P, Delanty, N, Dlugos, D, Eichler, E E, Epstein, M P, Glauser, T, Johnson, M R, Kuzniecky, R, Marson, A G, O’Brien, T J, Ottman, R, Petrou, S, Poduri, A, Pickrell, W O, Chung, S-K, Rees, M I, Sherr, E, Sadleir, L G, Goldstein, D B, Lowenstein, D H, Møller, R S, Berkovic, S F, Scheffer, I E, Mefford, H C & Epi4K Consortium 2016, ' De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies ', American Journal of Human Genetics, vol. 99, no. 2, pp. 287-298 . https://doi.org/10.1016/j.ajhg.2016.06.003
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d6d975ab76236d1f04f6bc2602b3ba
https://cronfa.swan.ac.uk/Record/cronfa29412/Download/0029412-04112016115320.pdf
https://cronfa.swan.ac.uk/Record/cronfa29412/Download/0029412-04112016115320.pdf
Autor:
Samuel F. Berkovic, Simone Mandelstam, Douglas E. Crompton, Matthew Zemel, Gemma L. Carvill, Amy L Schneider, Jacinta M McMahon, A. Simon Harvey, Julia Saykally, Joseph Sullivan, Brigid M. Regan, Saul A. Mullen, Katherine B. Howell, Leanne M. Dibbens, Heather C Mefford, Ingrid E. Scheffer, Richard J. Leventer
Publikováno v:
Neurology: Genetics
usc Refereed/Peer-reviewed Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and d