Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia

por Abdel-Mannan, Omar, D’Argenzio, Luigi, Pitt, Matthew, D’Arco, Felice, Bhate, Sanjay, Hacohen, Yael, Kaliakatsos, Marios
Publicado 2019

Case report: Novel treatment regimen for enterovirus encephalitis in SCID

por Chetty, Kritika, Cheng, Iek, Kaliakatsos, Marios, Gonzalez-Granado, Luis Ignacio, Klapsa, Dimitra, Martin, Javier, Bamford, Alasdair, Breuer, Judith, Booth, Claire
Publicado 2022

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

por Kojic, Marija, Abbassi, Nour E. H., Lin, Ting-Yu, Jones, Alun, Wakeling, Emma L., Clement, Emma, Nakou, Vasiliki, Singleton, Matthew, Dobosz, Dominika, Kaliakatsos, Marios, Glatt, Sebastian, Wainwright, Brandon J.
Publicado 2023

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

por Steel, Dora Batia Dyne, Danti, Federica Rachele, Abunada, Mohamed, Kamien, Benjamin, Malhotra, Sony, Topf, Maya, Kaliakatsos, Marios, Valentine, Jane, Nemeth, Andrea Hilary, Jayawant, Sandeep, Reid, Kimberley M., Mankad, Kshitij, Sudhakar, Sniya, Ben-Pazi, Hilla, Barwick, Katy, Kurian, Manju A.
Publicado 2023

Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study

por Sabanathan, Saraswathy, Abdel‐Mannan, Omar, Mankad, Kshitij, Siddiqui, Ata, Das, Krishna, Carr, Lucinda, Eltze, Christin, Eyre, Michael, Gadian, Jon, Hemingway, Cheryl, Kaliakatsos, Marios, Kneen, Rachel, Krishnakumar, Deepa, Lynch, Bryan, Parida, Amitav, Rossor, Thomas, Taylor, Micheal, Wassmer, Evangeline, Wright, Sukhvir, Lim, Ming, Hacohen, Yael
Publicado 2022

Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis

por Morfopoulou, Sofia, Mee, Edward T., Connaughton, Sarah M., Brown, Julianne R., Gilmour, Kimberly, Chong, WK ‘Kling’, Duprex, W. Paul, Ferguson, Deborah, Hubank, Mike, Hutchinson, Ciaran, Kaliakatsos, Marios, McQuaid, Stephen, Paine, Simon, Plagnol, Vincent, Ruis, Christopher, Virasami, Alex, Zhan, Hong, Jacques, Thomas S., Schepelmann, Silke, Qasim, Waseem, Breuer, Judith
Publicado 2016

Proposal to optimize evaluation and treatment of Febrile infection‐related epilepsy syndrome (FIRES): A Report from FIRES workshop

por Koh, Sookyong, Wirrell, Elaine, Vezzani, Annamaria, Nabbout, Rima, Muscal, Eyal, Kaliakatsos, Marios, Wickström, Ronny, Riviello, James J., Brunklaus, Andreas, Payne, Eric, Valentin, Antonio, Wells, Elizabeth, Carpenter, Jessica L., Lee, Kihyeong, Lai, Yi‐Chen, Eschbach, Krista, Press, Craig A., Gorman, Mark, Stredny, Coral M., Roche, William, Mangum, Tara
Publicado 2021

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

por Cooray, Samantha, Price-Kuehne, Fiona, Hong, Ying, Omoyinmi, Ebun, Burleigh, Alice, Gilmour, Kimberly C., Ahmad, Bilal, Choi, Sangdun, Bahar, Mohammad W., Torpiano, Paul, Gagunashvili, Andrey, Jensen, Barbara, Bellos, Evangelos, Sancho-Shimizu, Vanessa, Herberg, Jethro A., Mankad, Kshitij, Kumar, Atul, Kaliakatsos, Marios, Worth, Austen J. J., Eleftheriou, Despina, Whittaker, Elizabeth, Brogan, Paul A.
Publicado 2023

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort

por Lai, Yi‐Chen, Muscal, Eyal, Wells, Elizabeth, Shukla, Nikita, Eschbach, Krista, Hyeong Lee, Ki, Kaliakatsos, Marios, Desai, Nevedita, Wickström, Ronny, Viri, Maurizio, Freri, Elena, Granata, Tiziana, Nangia, Srishti, Dilena, Robertino, Brunklaus, Andreas, Wainwright, Mark S., Gorman, Mark P., Stredny, Coral M., Asiri, Abdurhman, Hundallah, Khalid, Doja, Asif, Payne, Eric, Wirrell, Elaine, Koh, Sookyong, Carpenter, Jessica L., Riviello, James
Publicado 2020

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

por Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Publicado 2021

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

por Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A
Publicado 2022

International consensus recommendations for management of new onset refractory status epilepticus (NORSE) including febrile infection‐related epilepsy syndrome (FIRES): Summary and...

por Wickström, Ronny, Taraschenko, Olga, Dilena, Robertino, Payne, Eric T., Specchio, Nicola, Nabbout, Rima, Koh, Sookyong, Gaspard, Nicolas, Hirsch, Lawrence J., Auvin, Stephane, van Baalen, Andreas, Beghi, Ettore, Benseler, Susanne M., Bergin, Peter, Bleck, Tom, Brunklaus, Andreas, Caraballo, Roberto H., Cervenka, Mackenzie, Costello, Daniel, Drislane, Frank, Farias‐Moeller, Raquel, Gallantine, William, Gilmore, Emily J., Gofton, Teneille, Jimenez, Maria Angeles Perez, Hocker, Sara, Kaliakatsos, Marios, Kellogg, Marissa, Lee, Jong Woo, Loddenkemper, Tobias, Meletti, Stefano, Mizugushi, Masashi, Muscal, Eyal, Riviello, James J., Rosenthal, Eric S., Rossetti, Andrea O., Ruegg, Stefan, Said, Rana, Sculier, Claudine, Schmitt, Sarah, Schuele, Stephan, Stredny, Coral, Trinka, Eugen, Wainwright, Mark, VanHaerents, Stephen, Wells, Elisabeth, Wirrell, Elaine, Zuberi, Sameer M.
Publicado 2022

International consensus recommendations for management of new onset refractory status epilepticus including febrile infection‐related epilepsy syndrome: Statements and supporting e...

por Wickstrom, Ronny, Taraschenko, Olga, Dilena, Robertino, Payne, Eric T., Specchio, Nicola, Nabbout, Rima, Koh, Sookyong, Gaspard, Nicolas, Hirsch, Lawrence J., Auvin, Stephane, van Baalen, Andreas, Beghi, Ettore, Benseler, Susanne M., Bergin, Peter, Bleck, Tom, Brunklaus, Andreas, Caraballo, Roberto H., Cervenka, Mackenzie, Costello, Daniel, Drislane, Frank, Farias‐Moeller, Raquel, Gallantine, William, Gilmore, Emily, Gofton, Teneille, Jimenez, Maria Angeles Perez, Hocker, Sara, Kaliakatsos, Marios, Kellogg, Marissa, Lee, Jong Woo, Loddenkemper, Tobias, Meletti, Stefano, Mizugushi, Masashi, Muscal, Eyal, Riviello, James J., Rosenthal, Eric S., Rossetti, Andrea O., Ruegg, Stefan, Said, Rana, Sculier, Claudine, Schmitt, Sarah, Schuele, Stephan, Stredny, Coral, Trinka, Eugen, Wainwright, Mark, VanHaerents, Stephen, Wells, Elisabeth, Wirrell, Elaine, Zuberi, Sameer M.
Publicado 2022