Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Carvill, Gemma L, Heavin, Sinéad B, Yendle, Simone C, McMahon, Jacinta M, O'Roak, Brian J, Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M E, Bleasel, Andrew, Howell, Katherine B, Kivity, Sara, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S, Gill, Deepak, Andrade, Danielle M, Freeman, Jeremy L, Sadleir, Lynette G, Shendure, Jay, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C
Published in Nature genetics (01.07.2013)
Published in Nature genetics (01.07.2013)
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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Thomas, Rhys H, Zhang, Lin Mei, Carvill, Gemma L, Archer, John S, Heavin, Sinéad B, Mandelstam, Simone A, Craiu, Dana, Berkovic, Samuel F, Gill, Deepak S, Mefford, Heather C, Scheffer, Ingrid E
Published in Neurology (03.03.2015)
Published in Neurology (03.03.2015)
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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
Benson, Katherine A, White, Maire, Allen, Nicholas M, Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J, Lynch, John, McCormack, Mark, Regan, Mary O', Podesta, Karl, Power, Kevin, Rogers, Anthony S, Steward, Charles A, Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, Cavalleri, Gianpiero L
Published in European journal of human genetics : EJHG (01.08.2020)
Published in European journal of human genetics : EJHG (01.08.2020)
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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S, Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B, Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R, Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter
Published in Neurology (05.11.2013)
Published in Neurology (05.11.2013)
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Intracellular Accumulation of High Levels of γ-Aminobutyrate by Listeria monocytogenes 10403S in Response to Low pH: Uncoupling of γ-Aminobutyrate Synthesis from Efflux in a Chemically Defined Medium
Karatzas, Kimon-Andreas G, Brennan, Orla, Heavin, Sinéad, Morrissey, John, O'Byrne, Conor P
Published in Applied and Environmental Microbiology (01.06.2010)
Published in Applied and Environmental Microbiology (01.06.2010)
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Genomic and clinical predictors of lacosamide response in refractory epilepsies
Heavin, Sinéad B., McCormack, Mark, Wolking, Stefan, Slattery, Lisa, Walley, Nicole, Avbersek, Andreja, Novy, Jan, Sinha, Saurabh R., Radtke, Rod, Doherty, Colin, Auce, Pauls, Craig, John, Johnson, Michael R., Koeleman, Bobby P. C., Krause, Roland, Kunz, Wolfram S., Marson, Anthony G., O'Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Stefansson, Hreinn, Striano, Pasquale, Zara, Federico, Depondt, Chantal, Sisodiya, Sanjay, Goldstein, David, Lerche, Holger, Cavalleri, Gianpiero L., Delanty, Norman
Published in Epilepsia open (01.12.2019)
Published in Epilepsia open (01.12.2019)
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Early and effective treatment of KCNQ2 encephalopathy
Pisano, Tiziana, Numis, Adam L., Heavin, Sinéad B., Weckhuysen, Sarah, Angriman, Marco, Suls, Arvid, Podesta, Barbara, Thibert, Ronald L., Shapiro, Kevin A., Guerrini, Renzo, Scheffer, Ingrid E., Marini, Carla, Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.05.2015)
Published in Epilepsia (Copenhagen) (01.05.2015)
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Intracellular Accumulation of High Levels of [gamma]-Aminobutyrate by Listeria monocytogenes 10403S in Response to Low pH: Uncoupling of [gamma]-Aminobutyrate Synthesis from Efflux in a Chemically Defined Medium
Karatzas, Kimon-Andreas G, Brennan, Orla, Heavin, Sinéad, Morrissey, John, O'Byrne, Conor P
Published in Applied and Environmental Microbiology (01.06.2010)
Published in Applied and Environmental Microbiology (01.06.2010)
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Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care
Delanty, Norman, White, Maire, Benson, Katherine, McCormack, Mark, Heavin, Sinead, Comerford, Elizabeth, Gangadharan, Nisha, Power, Kevin, Dunleavey, Brendan, El‐Naggar, Hany, Doherty, Colin, Greally, Marie, Cavalleri, Gianpiero, Fitzsimons, Mary
Published in Epilepsia (Copenhagen) (01.08.2019)
Published in Epilepsia (Copenhagen) (01.08.2019)
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The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings
Sen, Arjune, Dugan, Patricia, Perucca, Piero, Costello, Daniel, Choi, Hyunmi, Bazil, Carl, Radtke, Rod, Andrade, Danielle, Depondt, Chantal, Heavin, Sinead, Adcock, Jane, Pickrell, W. Owen, McGinty, Ronan N., Nascimento, Fábio, Smith, Philip, Rees, Mark I., Kwan, Patrick, O'Brien, Terence J., Goldstein, David, Delanty, Norman
Published in Epilepsia (Copenhagen) (01.07.2018)
Published in Epilepsia (Copenhagen) (01.07.2018)
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Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
Androsova, Ganna, Krause, Roland, Borghei, Mojgansadat, Wassenaar, Merel, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Berghuis, Bianca, Campbell, Ellen, Coppola, Antonietta, Francis, Ben, Wolking, Stefan, Cavalleri, Gianpiero L., Craig, John, Delanty, Norman, Koeleman, Bobby P. C., Kunz, Wolfram S., Lerche, Holger, Marson, Anthony G., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, Sisodiya, Sanjay M., Depondt, Chantal, Brodie, Martin J., Chinthapalli, Krishna, Haan, Gerrit‐Jan, Doherty, Colin, Gudmundsson, Lárus J., Heavin, Sinead, Ingason, Andres, Johnson, Michael, Kennedy, Clare, Krenn, Martin, McCormack, Mark, O'Brien, Terence J., Pandolfo, Massimo, Pataraia, Ekaterina, Petrovski, Slave, Rau, Sarah, Sargsyan, Narek, Slattery, Lisa, Stefánsson, Kári, Stern, William, Tostevin, Anna, Willis, Joseph, Zimprich, Fritz
Published in Epilepsia (Copenhagen) (01.10.2017)
Published in Epilepsia (Copenhagen) (01.10.2017)
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Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy
Silvennoinen, Katri, Lange, Nikola, Zagaglia, Sara, Balestrini, Simona, Androsova, Ganna, Wassenaar, Merel, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Berghuis, Bianca, Campbell, Ellen, Coppola, Antonietta, Francis, Ben, Wolking, Stefan, Cavalleri, Gianpiero L., Craig, John, Delanty, Norman, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Lerche, Holger, Marson, Anthony G., O’Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, Palen, Job, Krause, Roland, Depondt, Chantal, Sisodiya, Sanjay M., Brodie, Martin J., Chinthapalli, Krishna, de Haan, Gerrit‐Jan, Doherty, Colin P., Heavin, Sinead, McCormack, Mark, Petrovski, Slavé, Sargsyan, Narek, Slattery, Lisa, Willis, Joseph
Published in Epilepsia open (01.09.2019)
Published in Epilepsia open (01.09.2019)
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T, Newcomb, Tara M, Viollet, Louis, Huff, Chad, Jorde, Lynn B, Reyna, Sandra P, Murphy, Kelley J, Shianna, Kevin V, Gumbs, Curtis E, Little, Latasha, Silver, Kenneth, Ptáček, Louis J, Haan, Joost, Ferrari, Michel D, Bye, Ann M, Herkes, Geoffrey K, Whitelaw, Charlotte M, Webb, David, Lynch, Bryan J, Uldall, Peter, King, Mary D, Scheffer, Ingrid E, Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M J M, Sisodiya, Sanjay M, Mikati, Mohamad A, Goldstein, David B
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
McCormack, Mark, Gui, Hongsheng, Ingason, Andrés, Speed, Doug, Wright, Galen E B, Zhang, Eunice J, Secolin, Rodrigo, Yasuda, Clarissa, Kwok, Maxwell, Wolking, Stefan, Becker, Felicitas, Rau, Sarah, Avbersek, Andreja, Heggeli, Kristin, Leu, Costin, Depondt, Chantal, Sills, Graeme J, Marson, Anthony G, Auce, Pauls, Brodie, Martin J, Francis, Ben, Johnson, Michael R, Koeleman, Bobby P C, Striano, Pasquale, Coppola, Antonietta, Zara, Federico, Kunz, Wolfram S, Sander, Josemir W, Lerche, Holger, Klein, Karl Martin, Weckhuysen, Sarah, Krenn, Martin, Gudmundsson, Lárus J, Stefánsson, Kári, Krause, Roland, Shear, Neil, Ross, Colin J D, Delanty, Norman, Pirmohamed, Munir, Carleton, Bruce C, Cendes, Fernando, Lopes-Cendes, Iscia, Liao, Wei-Ping, O'Brien, Terence J, Sisodiya, Sanjay M, Cherny, Stacey, Kwan, Patrick, Baum, Larry, Cavalleri, Gianpiero L
Published in Neurology (23.01.2018)
Published in Neurology (23.01.2018)
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Early and effective treatment of KCNQ 2 encephalopathy
Pisano, Tiziana, Numis, Adam L., Heavin, Sinéad B., Weckhuysen, Sarah, Angriman, Marco, Suls, Arvid, Podesta, Barbara, Thibert, Ronald L., Shapiro, Kevin A., Guerrini, Renzo, Scheffer, Ingrid E., Marini, Carla, Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.05.2015)
Published in Epilepsia (Copenhagen) (01.05.2015)
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Journal Article
Intracellular accumulation of high levels of gamma-aminobutyrate by Listeria monocytogenes 10403S in response to low pH: uncoupling of gamma-aminobutyrate synthesis from efflux in a chemically defined medium
Karatzas, Kimon-Andreas G, Brennan, Orla, Heavin, Sinead, Morrissey, John J
Year of Publication 01.06.2010
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Year of Publication 01.06.2010
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