Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Martins, Custodio"'
Autor:
Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium, Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya
Publikováno v:
Epilepsia Open, Vol 6, Iss 4, Pp 770-776 (2021)
Abstract We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow‐up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit unde
Externí odkaz:
https://doaj.org/article/3eb93497700946c19517fb07bc3808c4
Autor:
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, 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, Sisodiya, Sanjay M.
Publikováno v:
In Epilepsy & Behavior March 2021 116
Autor:
Martins, Custodio Cavaco
University of Macau
Faculty of Social Sciences and Humanities
Department of Portuguese
Faculty of Social Sciences and Humanities
Department of Portuguese
Externí odkaz:
http://umaclib3.umac.mo/record=b1636619
Autor:
Susanna Pagni, Helena Martins Custodio, Adam Frankish, Jonathan M Mudge, James D Mills, Sanjay M Sisodiya
Publikováno v:
Human Molecular Genetics. 32:1753-1763
Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a
Akademický článek
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Autor:
Katri Silvennoinen, Kinga Gawel, Despina Tsortouktzidis, Julika Pitsch, Saud Alhusaini, Karen M. J. van Loo, Richard Picardo, Zuzanna Michalak, Susanna Pagni, Helena Martins Custodio, James Mills, Christopher D. Whelan, Greig I. de Zubicaray, Katie L. McMahon, Wietske van der Ent, Karolina J. Kirstein-Smardzewska, Ettore Tiraboschi, Jonathan M. Mudge, Adam Frankish, Maria Thom, Margaret J. Wright, Paul M. Thompson, Susanne Schoch, Albert J. Becker, Camila V. Esguerra, Sanjay M. Sisodiya
Publikováno v:
Acta Neuropathol (Berl) 144(1), 107-127 (2022). doi:10.1007/s00401-022-02429-0
Acta Neuropathologica
Acta Neuropathologica
Acta Neuropathol (Berl) 144(1), 107-127 (2022). doi:10.1007/s00401-022-02429-0
Published by Springer, Berlin ; Heidelberg
Published by Springer, Berlin ; Heidelberg
Autor:
Simona Balestrini, Yvonne G. Weber, Antonio Gambardella, Michael G Doyle, Genevieve Rayner, Vera Braatz, Sanjay M. Sisodiya, Norman Delanty, Stella Calafato, Helena Martins Custodio, J Foong, Francesca Bisulli, Samuel F. Berkovic, Luigi Agrò, Christian Hengsbach, Elvira Bramon, Baihan Wang, Gianpiero L. Cavalleri, Costin Leu, Ingrid E. Scheffer
Publikováno v:
Annals of neurology 90(3), 464-476 (2021). doi:10.1002/ana.26174
Annals of neurology 90(3), 464-476 (2021). doi:10.1002/ana.26174
Published by Wiley-Blackwell, Hoboken, NJ
Published by Wiley-Blackwell, Hoboken, NJ
Autor:
Sanjay M. Sisodiya, Simona Balestrini, Helena Martins Custodio, Katri Silvennoinen, Wendy D Jones, Kirsty Hudgell, Meneka K. Sidhu, Clinda Puvirajasinghe
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 6, Iss 4, Pp 770-776 (2021)
Epilepsia Open, Vol 6, Iss 4, Pp 770-776 (2021)
We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow‐up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent who
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Katri Silvennoinen, Helena Martins Custodio, Simona Balestrini, Fergus Rugg-Gunn, Genomics England Research Consortium, Sanjay M Sisodiya
Publikováno v:
Practical Neurology. 21:153-156
Current presentation The patient is right-handed, in early 50s and carries the diagnoses of generalised tonic-clonic seizures, spastic quadriparesis and severe learning disability. Generalised tonic-clonic seizures, the only reported seizure type, oc