Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sinéad Heavin"'
Autor:
Nicholas M. Allen, Nisha Gangadharan, Kevin Power, Robert Carton, Katherine A. Benson, Brian Sweeney, Norman Delanty, John Lynch, Karl Podesta, Sinéad Heavin, Elizabeth Comerford, Mary Fitzsimons, Hugh Kearney, Colin P. Doherty, Charles A. Steward, Hany El-Naggar, Susan Byrne, Anthony Rogers, Mark McCormack, Brendan Dunleavey, Gianpiero L. Cavalleri, Marie T. Greally, David Webb, Mary O’ Regan, Daniel J. Costello, Nicholas Lench, Maire White
Publikováno v:
Eur J Hum Genet
Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in ad
Autor:
Kevin Power, Elizabeth Comerford, Mary Fitzsimons, Norman Delanty, Nisha Gangadharan, Marie T. Greally, Katherine A. Benson, Hany El-Naggar, Mark McCormack, Sinéad Heavin, Maire White, Colin P. Doherty, Brendan Dunleavey, Gianpiero L. Cavalleri
Publikováno v:
Epilepsia. 60:1670-1677
Objectives: Both clinical genomics and e-Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health reco
The phenotype of bilateral hippocampal sclerosis and its management in 'real life' clinical settings
Autor:
Sinéad Heavin, Fábio A. Nascimento, Mark I. Rees, Patricia Dugan, Hyunmi Choi, Daniel J. Costello, Piero Perucca, Philip E. M. Smith, Ronan N. McGinty, Carl W. Bazil, Arjune Sen, David P. Goldstein, Rod Radtke, Patrick Kwan, Chantal Depondt, Norman Delanty, Terence J. O'Brien, Jane E. Adcock, Danielle M. Andrade, W. Owen Pickrell
Publikováno v:
Epilepsia. 59:1410-1420
Objective There is little detailed phenotypic characterization of bilateral hippocampal sclerosis (HS). We therefore conducted a multicenter review of people with pharmacoresistant epilepsy and bilateral HS to better determine their clinical characte
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
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
Autor:
Rhys H. Thomas, Simone Mandelstam, Heather C Mefford, Samuel F. Berkovic, Ingrid E. Scheffer, John S. Archer, Sinéad Heavin, Lin Mei Zhang, Deepak Gill, Dana Craiu, Gemma L. Carvill
Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2.\ud \ud Methods: We analyzed the medical history, MRI, and video-EEG rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017d564889222fa0abb35de8e2c94110
https://europepmc.org/articles/PMC4351660/
https://europepmc.org/articles/PMC4351660/
Autor:
Kevin A. Shapiro, Tiziana Pisano, Ingrid E. Scheffer, Carla Marini, Sinéad Heavin, Sarah Weckhuysen, Renzo Guerrini, Ronald L. Thibert, Marco Angriman, Maria Roberta Cilio, Arvid Suls, Adam L. Numis, Barbara Podesta
Publikováno v:
Epilepsia
SummaryObjectives To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life. Methods We identified 15 patients and reviewed
Autor:
I. Benkel, Rik Hendrickx, Beate Albrecht, S Gronborg, De Jonghe P, Annapurna Poduri, Marco Angriman, Carla Marini, Andrea Bevot, Pasquale Striano, Renzo Guerrini, Sinéad Heavin, Berten Ceulemans, Ingrid E. Scheffer, Sarah Weckhuysen, Lemke, G Casara, Arvid Suls, Rita Horvath, Ivanovic, Simone Mandelstam, Kevin Rostasy, Van, Coster, R, E Haberlandt, Christin Eltze, Rikke S. Møller, An-Sofie Schoonjans, S Syrbe, Tiziana Pisano, B Sheidley, Lucio Giordano, H. Hjalgrim
Publikováno v:
Neurology
Weckhuysen, S, Ivanovic, V, Hendrickx, R, Van Coster, R, Hjalgrim, H, Moller, R S, Gronborg, S, Schoonjans, A S, Ceulemans, B, Heavin, S B, Eltze, C, Horvath, R, Casara, G, Pisano, T, Giordano, L, Rostasy, K, Haberlandt, E, Albrecht, B, Bevot, A, Benkel, I, Syrbe, S, Sheidley, B, Guerrini, R, Poduri, A, Lemke, J R, Mandelstam, S, Scheffer, I, Angriman, M, Striano, P, Marini, C, Suls, A & De Jonghe, P 2013, ' Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients ', Neurology, vol. 81, no. 19, pp. 1697-1703 . https://doi.org/10.1212/01.wnl.0000435296.72400.a1
Weckhuysen, S, Ivanovic, V, Hendrickx, R, Van Coster, R, Hjalgrim, H, Moller, R S, Gronborg, S, Schoonjans, A S, Ceulemans, B, Heavin, S B, Eltze, C, Horvath, R, Casara, G, Pisano, T, Giordano, L, Rostasy, K, Haberlandt, E, Albrecht, B, Bevot, A, Benkel, I, Syrbe, S, Sheidley, B, Guerrini, R, Poduri, A, Lemke, J R, Mandelstam, S, Scheffer, I, Angriman, M, Striano, P, Marini, C, Suls, A & De Jonghe, P 2013, ' Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients ', Neurology, vol. 81, no. 19, pp. 1697-1703 . https://doi.org/10.1212/01.wnl.0000435296.72400.a1
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy. Methods: Eighty-four patients with unexplained NEE were scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b7c49b4bb0c7ad5c1e75253567fd35
http://hdl.handle.net/11567/772819
http://hdl.handle.net/11567/772819
Publikováno v:
Applied and environmental microbiology. 76(11)
It is well established that the glutamate decarboxylase (GAD) system is central to the survival of Listeria monocytogenes at low pH, both in acidic foods and within the mammalian stomach. The accepted model proposes that under acidic conditions extra