Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice
Vakrinou, Angeliki, Bellampalli, Ravishankara, Gulcebi, Medine I, Martins Custodio, Helena, Research Consortium, Genomics England, Balestrini, Simona, Sisodiya, Sanjay M
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
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Postictal Psychosis in Epilepsy: A Clinicogenetic Study
Braatz, Vera, Martins Custodio, Helena, Leu, Costin, Agrò, Luigi, Wang, Baihan, Calafato, Stella, Rayner, Genevieve, Doyle, Michael G., Hengsbach, Christian, Bisulli, Francesca, Weber, Yvonne G., Gambardella, Antonio, Delanty, Norman, Cavalleri, Gianpiero, Foong, Jacqueline, Scheffer, Ingrid E., Berkovic, Samuel F., Bramon, Elvira, Balestrini, Simona, Sisodiya, Sanjay M.
Published in Annals of neurology (01.09.2021)
Published in Annals of neurology (01.09.2021)
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Climate change and epilepsy: Insights from clinical and basic science studies
Gulcebi, Medine I., Bartolini, Emanuele, Lee, Omay, Lisgaras, Christos Panagiotis, Onat, Filiz, Mifsud, Janet, Striano, Pasquale, Vezzani, Annamaria, Hildebrand, Michael S., Jimenez-Jimenez, Diego, Junck, Larry, Lewis-Smith, David, Scheffer, Ingrid E., Thijs, Roland D., Zuberi, Sameer M., Blenkinsop, Stephen, Fowler, Hayley J., Foley, Aideen, Balestrini, Simona, Berkovic, Samuel, Cavalleri, Gianpiero, Correa, Daniel José, Martins Custodio, Helena, Galovic, Marian, Guerrini, Renzo, Henshall, David, Howard, Olga, Hughes, Kelvin, Katsarou, Anna, Koeleman, Bobby P.C., Krause, Roland, Lowenstein, Daniel, Mandelenaki, Despoina, Marini, Carla, O’Brien, Terence J., Pace, Adrian, De Palma, Luca, Perucca, Piero, Pitkänen, Asla, Quinn, Finola, Selmer, Kaja Kristine, Steward, Charles A., Swanborough, Nicola, Thijs, Roland, Tittensor, Phil, Trivisano, Marina, Weckhuysen, Sarah, Zara, Federico, Sisodiya, Sanjay M.
Published in Epilepsy & behavior (01.03.2021)
Published in Epilepsy & behavior (01.03.2021)
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SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility
Silvennoinen, Katri, Gawel, Kinga, Tsortouktzidis, Despina, Pitsch, Julika, Alhusaini, Saud, van Loo, Karen M. J., Picardo, Richard, Michalak, Zuzanna, Pagni, Susanna, Martins Custodio, Helena, Mills, James, Whelan, Christopher D., de Zubicaray, Greig I., McMahon, Katie L., van der Ent, Wietske, Kirstein-Smardzewska, Karolina J., Tiraboschi, Ettore, Mudge, Jonathan M., Frankish, Adam, Thom, Maria, Wright, Margaret J., Thompson, Paul M., Schoch, Susanne, Becker, Albert J., Esguerra, Camila V., Sisodiya, Sanjay M.
Published in Acta neuropathologica (01.07.2022)
Published in Acta neuropathologica (01.07.2022)
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Complex epilepsy: it’s all in the history
Silvennoinen, Katri, Martins Custodio, Helena, Balestrini, Simona, Rugg-Gunn, Fergus, England Research Consortium, Genomics, Sisodiya, Sanjay M
Published in Practical neurology (01.04.2021)
Published in Practical neurology (01.04.2021)
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The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy
McNicholas, Olivia C, Jiménez-Jiménez, Diego, Oliveira, Joana F A, Ferguson, Lauren, Bellampalli, Ravishankara, McLaughlin, Charlotte, Chowdhury, Fahmida Amin, Martins Custodio, Helena, Moloney, Patrick, Mavrogianni, Anna, Diehl, Beate, Sisodiya, Sanjay M
Published in Brain communications (10.09.2024)
Published in Brain communications (10.09.2024)
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RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood
Zagaglia, Sara, Steel, Dora, Krithika, S, Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M, Vezyroglou, Aikaterini, Møller, Rikke S, King, Mary D, Hammer, Trine Bjørg, Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J Helen, Mallick, Andrew A, Sanchis-Juan, Alba, Basu, Anna, Raymond, F Lucy, Lynch, Bryan J, Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah, Sisodiya, Sanjay M, Kurian, Manju A
Published in Neurology (16.03.2021)
Published in Neurology (16.03.2021)
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