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 Chemic...

by Karatzas, Kimon-Andreas G., Brennan, Orla, Heavin, Sinéad, Morrissey, John, O'Byrne, Conor P.
Published 2010

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

by 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 (2015)

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

by 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 Eur J Hum Genet (2020)

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

by 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 2013

Genomic and clinical predictors of lacosamide response in refractory epilepsies

by 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 (2019)

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

by 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 2014

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

by 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 2013

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

by 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, Ptác̆ek, 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., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Published 2012