SCN1A gain of function in early infantile encephalopathy
Berecki, Géza, Bryson, Alexander, Terhag, Jan, Maljevic, Snezana, Gazina, Elena V., Hill, Sean L., Petrou, Steven
Published in Annals of neurology (01.04.2019)
Published in Annals of neurology (01.04.2019)
Get full text
Journal Article
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
Published in Annals of neurology (01.04.2014)
Published in Annals of neurology (01.04.2014)
Get full text
Journal Article
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
Carvill, Gemma L, Weckhuysen, Sarah, McMahon, Jacinta M, Hartmann, Corinna, Møller, Rikke S, Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O'Roak, Brian J, Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G, Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L, Gazina, Elena V, Suls, Arvid, Shendure, Jay, Dibbens, Leanne M, De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C
Published in Neurology (08.04.2014)
Published in Neurology (08.04.2014)
Get more information
Journal Article
Clinical and molecular characterization of KCNT1 -related severe early-onset epilepsy
McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V, Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V, Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H, Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E, Chong, W K Kling, Cross, J Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A
Published in Neurology (02.01.2018)
Published in Neurology (02.01.2018)
Get more information
Journal Article
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, Mark A, Bellows, Susannah T, Li, Melody, Carroll, Renée, Micallef, Silvana, Carvill, Gemma L, Myers, Candace T, Howell, Katherine B, Maljevic, Snezana, Lerche, Holger, Gazina, Elena V, Mefford, Heather C, Bahlo, Melanie, Berkovic, Samuel F, Petrou, Steven, Scheffer, Ingrid E, Gecz, Jozef
Published in Neurology (08.11.2016)
Published in Neurology (08.11.2016)
Get more information
Journal Article
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery
Delahaye-Duriez, Andree, Srivastava, Prashant, Shkura, Kirill, Langley, Sarah R, Laaniste, Liisi, Moreno-Moral, Aida, Danis, Bénédicte, Mazzuferi, Manuela, Foerch, Patrik, Gazina, Elena V, Richards, Kay, Petrou, Steven, Kaminski, Rafal M, Petretto, Enrico, Johnson, Michael R
Published in Genome Biology (13.12.2016)
Published in Genome Biology (13.12.2016)
Get full text
Journal Article
Antisense oligonucleotide therapy for KCNT1 encephalopathy
Burbano, Lisseth Estefania, Li, Melody, Jancovski, Nikola, Jafar-Nejad, Paymaan, Richards, Kay, Sedo, Alicia, Soriano, Armand, Rollo, Ben, Jia, Linghan, Gazina, Elena V, Piltz, Sandra, Adikusuma, Fatwa, Thomas, Paul Q, Kopsidas, Helen, Rigo, Frank, Reid, Christopher A, Maljevic, Snezana, Petrou, Steven
Published in JCI insight (08.12.2022)
Published in JCI insight (08.12.2022)
Get full text
Journal Article
'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour
Gazina, Elena V, Leaw, Bryan T W, Richards, Kay L, Wimmer, Verena C, Kim, Tae H, Aumann, Timothy D, Featherby, Travis J, Churilov, Leonid, Hammond, Vicki E, Reid, Christopher A, Petrou, Steven
Published in Human molecular genetics (01.03.2015)
Published in Human molecular genetics (01.03.2015)
Get full text
Journal Article
A targeted resequencing gene panel for focal epilepsy
Hildebrand, Michael S, Myers, Candace T, Carvill, Gemma L, Regan, Brigid M, Damiano, John A, Mullen, Saul A, Newton, Mark R, Nair, Umesh, Gazina, Elena V, Milligan, Carol J, Reid, Christopher A, Petrou, Steven, Scheffer, Ingrid E, Berkovic, Samuel F, Mefford, Heather C
Published in Neurology (26.04.2016)
Published in Neurology (26.04.2016)
Get more information
Journal Article
Method of derivation and differentiation of mouse embryonic stem cells generating synchronous neuronal networks
Gazina, Elena V., Morrisroe, Emma, Mendis, Gunarathna D.C., Michalska, Anna E., Chen, Joseph, Nefzger, Christian M., Rollo, Benjamin N., Reid, Christopher A., Pera, Martin F., Petrou, Steven
Published in Journal of neuroscience methods (01.01.2018)
Published in Journal of neuroscience methods (01.01.2018)
Get full text
Journal Article
Heat opens axon initial segment sodium channels: A febrile seizure mechanism?
Thomas, Evan A., Hawkins, Roger J., Richards, Kay L., Xu, Ruwei, Gazina, Elena V., Petrou, Steven
Published in Annals of neurology (01.08.2009)
Published in Annals of neurology (01.08.2009)
Get full text
Journal Article
Development of a rapid functional assay that predicts GLUT1 disease severity
Zaman, Sasha M, Mullen, Saul A, Petrovski, Slavé, Maljevic, Snezana, Gazina, Elena V, Phillips, A Marie, Jones, Gabriel Davis, Hildebrand, Michael S, Damiano, John, Auvin, Stéphane, Lerche, Holger, Weber, Yvonne G, Berkovic, Samuel F, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven
Published in Neurology. Genetics (01.12.2018)
Published in Neurology. Genetics (01.12.2018)
Get full text
Journal Article
Amiloride Is a Competitive Inhibitor of Coxsackievirus B3 RNA Polymerase
GAZINA, Elena V, SMIDANSKY, Eric D, HOLIEN, Jessica K, HARRISON, David N, CROMER, Brett A, ARNOLD, Jamie J, PARKER, Michael W, CAMERON, Craig E, PETROU, Steven
Published in Journal of Virology (01.10.2011)
Published in Journal of Virology (01.10.2011)
Get full text
Journal Article
Amiloride Derivatives Inhibit Coxsackievirus B3 RNA Replication
Harrison, David N, Gazina, Elena V, Purcell, Damian F, Anderson, David A, Petrou, Steven
Published in Journal of Virology (01.02.2008)
Published in Journal of Virology (01.02.2008)
Get full text
Journal Article
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
Xu, Ruwei, Thomas, Evan A., Jenkins, Misty, Gazina, Elena V., Chiu, Cindy, Heron, Sarah E., Mulley, John C., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
Published in Molecular and cellular neuroscience (01.06.2007)
Published in Molecular and cellular neuroscience (01.06.2007)
Get full text
Journal Article
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Hildebrand, Michael S., Tankard, Rick, Gazina, Elena V., Damiano, John A., Lawrence, Kate M., Dahl, Hans‐Henrik M., Regan, Brigid M., Shearer, Aiden Eliot, Smith, Richard J. H., Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E., Reid, Christopher A., Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F.
Published in Annals of clinical and translational neurology (01.08.2015)
Published in Annals of clinical and translational neurology (01.08.2015)
Get full text
Journal Article
Ion transport blockers inhibit human rhinovirus 2 release
Gazina, Elena V., Harrison, David N., Jefferies, Meryem, Tan, Heneu, Williams, David, Anderson, David A., Petrou, Steven
Published in Antiviral research (01.08.2005)
Published in Antiviral research (01.08.2005)
Get full text
Journal Article