Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Marios Kaliakatsos"'
Autor:
Dimitrios Champsas, Xushuo Zhang, Richard Rosch, Evangelia Ioannidou, Kimberly Gilmour, Gerald Cooray, Gavin Woodhall, Suresh Pujar, Marios Kaliakatsos, Sukhvir K. Wright
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionNew onset refractory status epilepticus (NORSE) is a rare and devastating condition characterised by the sudden onset of refractory status epilepticus (RSE) without an identifiable acute or active structural, toxic, or metabolic cause in
Externí odkaz:
https://doaj.org/article/0b7ebfe533164310ab3a0ef772cccfbe
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4
Autor:
Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Vanessa Sancho-Shimizu, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Paul A. Brogan
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. IRAK-4 is a serine/threonine kinase with a pivotal role in i
Externí odkaz:
https://doaj.org/article/cc3c5eb230e24ef5b59552b35c80a37b
Autor:
Saraswathy Sabanathan, Omar Abdel‐Mannan, Kshitij Mankad, Ata Siddiqui, Krishna Das, Lucinda Carr, Christin Eltze, Michael Eyre, Jon Gadian, Cheryl Hemingway, Marios Kaliakatsos, Rachel Kneen, Deepa Krishnakumar, Bryan Lynch, Amitav Parida, Thomas Rossor, Micheal Taylor, Evangeline Wassmer, Sukhvir Wright, Ming Lim, Yael Hacohen
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 1, Pp 67-78 (2022)
Abstract Objectives To describe the clinical presentation, investigations, management, and disease course in pediatric autoimmune limbic encephalitis (LE). Methods In this retrospective observational study, from the UK Childhood Neuroinflammatory Dis
Externí odkaz:
https://doaj.org/article/682bba95d1374e10ab64b76b766d11d8
Autor:
Kritika Chetty, Iek Cheng, Marios Kaliakatsos, Luis Ignacio Gonzalez-Granado, Dimitra Klapsa, Javier Martin, Alasdair Bamford, Judith Breuer, Claire Booth
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Most non-polio enterovirus infections in immunocompetent individuals are acute and self-limiting in nature; however, infection can be severe, chronic and have devastating outcomes in immunocompromised hosts. Therapeutic strategies have predominantly
Externí odkaz:
https://doaj.org/article/ff810ed0964542a99823e5d53aeead06
Autor:
Sookyong Koh, Elaine Wirrell, Annamaria Vezzani, Rima Nabbout, Eyal Muscal, Marios Kaliakatsos, Ronny Wickström, James J. Riviello, Andreas Brunklaus, Eric Payne, Antonio Valentin, Elizabeth Wells, Jessica L. Carpenter, Kihyeong Lee, Yi‐Chen Lai, Krista Eschbach, Craig A. Press, Mark Gorman, Coral M. Stredny, William Roche, Tara Mangum
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 62-72 (2021)
Abstract Febrile infection‐related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, and hig
Externí odkaz:
https://doaj.org/article/c5b4af530f81483780c35dbdb1805674
Autor:
Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf, Marios Kaliakatsos, Jane Valentine, Andrea Hilary Nemeth, Sandeep Jayawant, Kimberley M. Reid, Kshitij Mankad, Sniya Sudhakar, Hilla Ben-Pazi, Katy Barwick, Manju A. Kurian
Publikováno v:
Neurology. 100:e2214-e2223
Background and ObjectivesBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants inSLC30A9presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has p
Publikováno v:
Developmental Medicine & Child Neurology.
Autor:
Marija Kojic, Nour E. H. Abbassi, Ting-Yu Lin, Alun Jones, Emma L. Wakeling, Emma Clement, Vasiliki Nakou, Matthew Singleton, Dominika Dobosz, Marios Kaliakatsos, Sebastian Glatt, Brandon J. Wainwright
Publikováno v:
Journal of Human Genetics.
Background Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability and social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulat
Publikováno v:
The Lancet Child & Adolescent Health. 6:359-361
Autor:
Athina, Ververi, Sara, Zagaglia, Lara, Menzies, Julia, Baptista, Richard, Caswell, Stephanie, Baulac, Sian, Ellard, Sally, Lynch, Genomics England Research, Consortium, Thomas S, Jacques, Maninder Singh, Chawla, Martin, Heier, Mari Ann, Kulseth, Inger-Lise, Mero, Anne Katrine, Våtevik, Ichraf, Kraoua, Hanene Ben, Rhouma, Thouraya Ben, Younes, Zouhour, Miladi, Ilhem Ben Youssef, Turki, Wendy D, Jones, Emma, Clement, Christin, Eltze, Kshitij, Mankad, Ashirwad, Merve, Jennifer, Parker, Bethan, Hoskins, Ronit, Pressler, Sniya, Sudhakar, Catherine, DeVile, Tessa, Homfray, Marios, Kaliakatsos, Prab Prabhakar, Ponnudas, Robert, Robinson, Sara Margrete Bøen, Keim, Imen, Habibi, Alexandre, Reymond, Sanjay M, Sisodiya, Jane A, Hurst
Publikováno v:
Human molecular genetics.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortica