Pharmacogenomics in epilepsy

Autor Balestrini, Simona, Sisodiya, Sanjay M.
Vydáno v Neurosci Lett (2018)

Drug-resistant epilepsy, early-onset hypertension and white matter lesions: a hidden paraganglioma

Autor Silvennoinen, Katri, Waghorn, Alison J, Balestrini, Simona, Sisodiya, Sanjay M
Vydáno v BMJ Case Rep (2019)

The impact of COVID‐19 in Dravet syndrome: A UK survey

Autor Balestrini, Simona, Wilson, Galia, Eldred, Claire, Evans, Helen, Sisodiya, Sanjay M.
Vydáno v Acta Neurol Scand (2021)

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

Autor Coppola, Antonietta, Hernandez-Hernandez, Laura, Balestrini, Simona, Krithika, S., Moran, Nicholas, Hale, Blake, Cordivari, Carla, Sisodiya, Sanjay M.
Vydáno v J Neurol (2020)

Sex-associated differences in the modulation of vascular risk in patients with asymptomatic carotid stenosis

Autor Buratti, Laura, Balestrini, Simona, Avitabile, Emma, Altamura, Claudia, Vernieri, Fabrizio, Viticchi, Giovanna, Falsetti, Lorenzo, Provinciali, Leandro, Silvestrini, Mauro
Vydáno v J Cereb Blood Flow Metab (2015)

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy

Autor Coppola, Antonietta, Morrogh, Deborah, Farrell, Fiona, Balestrini, Simona, Hernandez-Hernandez, Laura, Krithika, S., Sander, Josemir W., Waters, Jonathan J., Sisodiya, Sanjay M.
Vydáno v Mol Syndromol (2017)

Increased facial asymmetry in focal epilepsies associated with unilateral lesions

Autor Balestrini, Simona, Lopez, Seymour M, Chinthapalli, Krishna, Sargsyan, Narek, Demurtas, Rita, Vos, Sjoerd, Altmann, Andre, Suttie, Michael, Hammond, Peter, Sisodiya, Sanjay M
Vydáno v Brain Commun (2021)

Perampanel Confirms to Be Effective and Well-Tolerated as an Add-On Treatment in Patients With Brain Tumor-Related Epilepsy (PERADET Study)

Autor Coppola, Antonietta, Zarabla, Alessia, Maialetti, Andrea, Villani, Veronica, Koudriavtseva, Tatiana, Russo, Emilio, Nozzolillo, Agostino, Sueri, Chiara, Belcastro, Vincenzo, Balestrini, Simona, Ferlazzo, Edoardo, Giannarelli, Diana, Bilo, Leonilda, Maschio, Marta
Vydáno v Front Neurol (2020)

Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy

Autor Balestrini, Simona, Clayton, Lisa M S, Bartmann, Ana P, Chinthapalli, Krishna, Novy, Jan, Coppola, Antonietta, Wandschneider, Britta, Stern, William M, Acheson, James, Bell, Gail S, Sander, Josemir W, Sisodiya, Sanjay M
Vydáno v J Neurol Neurosurg Psychiatry (2016)

Structural imaging biomarkers of sudden unexpected death in epilepsy

Autor Wandschneider, Britta, Koepp, Matthias, Scott, Catherine, Micallef, Caroline, Balestrini, Simona, Sisodiya, Sanjay M., Thom, Maria, Harper, Ronald M., Sander, Josemir W., Vos, Sjoerd B., Duncan, John S., Lhatoo, Samden, Diehl, Beate
Vydáno v Brain (2015)

Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy

Autor Schoeler, Natasha E., Leu, Costin, Balestrini, Simona, Mudge, Jonathan M., Steward, Charles A., Frankish, Adam, Leung, Mary‐Anne, Mackay, Mark, Scheffer, Ingrid, Williams, Ruth, Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Vydáno v Epilepsia (2018)

Cerebellar, limbic and midbrain volume alterations in sudden unexpected death in epilepsy (SUDEP)

Autor Allen, Luke A., Vos, Sjoerd B., Kumar, Rajesh, Ogren, Jennifer A., Harper, Rebecca K., Winston, Gavin P., Balestrini, Simona, Wandschneider, Britta, Scott, Catherine A., Ourselin, Sebsatien, Duncan, John S., Lhatoo, Samden D., Harper, Ronald M., Diehl, Beate
Vydáno v Epilepsia (2019)

Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Autor Balestrini, Simona, Koepp, Matthias J., Gandhi, Sonia, Rickman, Hannah M., Shin, Gee Yen, Houlihan, Catherine F., Anders-Cannon, Jonny, Silvennoinen, Katri, Xiao, Fenglai, Zagaglia, Sara, Hudgell, Kirsty, Ziomek, Mariusz, Haimes, Paul, Sampson, Adam, Parker, Annie, Helen Cross, J., Pardington, Rosemarie, Nastouli, Eleni, Swanton, Charles, Sander, Josemir W., Sisodiya, Sanjay M.
Vydáno v Epilepsy Behav (2021)

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Autor Silvennoinen, Katri, de 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, van der Palen, Job, Krause, Roland, Depondt, Chantal, Sisodiya, Sanjay M.
Vydáno v Epilepsia Open (2019)

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Autor Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Vydáno v EBioMedicine (2015)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Autor de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Vydáno v J Med Genet (2016)

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Autor Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.
Vydáno v Neurology (2018)

Clinical spectrum of STX1B-related epileptic disorders

Autor Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Vydáno v Neurology (2019)

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Autor Balestrini, Simona, Mikati, Mohamad A., Álvarez-García-Rovés, Reyes, Carboni, Michael, Hunanyan, Arsen S., Kherallah, Bassil, McLean, Melissa, Prange, Lyndsey, De Grandis, Elisa, Gagliardi, Alessandra, Pisciotta, Livia, Stagnaro, Michela, Veneselli, Edvige, Campistol, Jaume, Fons, Carmen, Pias-Peleteiro, Leticia, Brashear, Allison, Miller, Charlotte, Samões, Raquel, Brankovic, Vesna, Padiath, Quasar S., Potic, Ana, Pilch, Jacek, Vezyroglou, Aikaterini, Bye, Ann M.E., Davis, Andrew M., Ryan, Monique M., Semsarian, Christopher, Hollingsworth, Georgina, Scheffer, Ingrid E., Granata, Tiziana, Nardocci, Nardo, Ragona, Francesca, Arzimanoglou, Alexis, Panagiotakaki, Eleni, Carrilho, Inês, Zucca, Claudio, Novy, Jan, Dzieżyc, Karolina, Parowicz, Marek, Mazurkiewicz-Bełdzińska, Maria, Weckhuysen, Sarah, Pons, Roser, Groppa, Sergiu, Sinden, Daniel S., Pitt, Geoffrey S., Tinker, Andrew, Ashworth, Michael, Michalak, Zuzanna, Thom, Maria, Cross, J. Helen, Vavassori, Rosaria, Kaski, Juan P., Sisodiya, Sanjay M.
Vydáno v Neurology (2020)

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Autor Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Vydáno v Neurology (2016)