Zobrazeno 1 - 10
of 1 081
pro vyhledávání: '"E, Scheffer"'
Autor:
Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1643-1657 (2024)
Abstract Fenfluramine (FFA), an antiseizure medication (ASM) with serotonergic and sigma‐1 receptor activity, is used to manage patients with developmental and epileptic encephalopathies (DEEs). It is approved in the US for treating seizures associ
Externí odkaz:
https://doaj.org/article/3dc1b09b0bfc46e7857e957e7df05a9b
Autor:
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but rem
Externí odkaz:
https://doaj.org/article/56ab879163324f04934308a670c8a49d
Autor:
Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno
Externí odkaz:
https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1
Autor:
Russell Nightscales, Zhibin Chen, Sarah Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel F. Berkovic, John‐Paul Nicolo, Terence J. O'Brien, Piero Perucca, Ingrid E. Scheffer, Patrick Kwan
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 602-612 (2024)
Abstract Objective Lennox‐Gastaut syndrome (LGS) is an archetypal developmental and epileptic encephalopathy, for which novel treatments are emerging. Diagnostic criteria for LGS have recently been defined by the International League Against Epilep
Externí odkaz:
https://doaj.org/article/5ce51fa4d8a44da7853fe51fc102ebf0
Autor:
Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Clustering Epilepsy (CE) is an epileptic disorder with neurological comorbidities caused by heterozygous variants of the X chromosome gene Protocadherin 19 (PCDH19). Recent studies have implicated dysregulation of the Nuclear Hormone Recepto
Externí odkaz:
https://doaj.org/article/49c5d18714fc434c9a7aaf572909f7c5
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2036-2040 (2022)
Abstract Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticu
Externí odkaz:
https://doaj.org/article/d8b97245aba84ca8b253da6d65cb508f
Autor:
L. Breugelmans, E. Scheffer, L. W. M. E. Beckers, R. F. A. Oosterwijk, G. Nijland, R. J. E. M. Smeets
Publikováno v:
BMC Research Notes, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Objective To provide a thorough and systematic description of an interdisciplinary multimodal pain treatment programme (IMPT) for patients with chronic musculoskeletal pain (CMP), using the TIDieR checklist as a guide. Results The main goal
Externí odkaz:
https://doaj.org/article/630f34271ec5478882f9c702e449a13b
Autor:
Tamar Sapir, Aditya Kshirsagar, Anna Gorelik, Tsviya Olender, Ziv Porat, Ingrid E. Scheffer, David B. Goldstein, Orrin Devinsky, Orly Reiner
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
HNRNPU is an RNA splicing protein associated with brain disorders such as early onset seizures. Here they show that HNRNPU functions to maintain neural progenitors and their progeny by regulating splicing of key neuronal genes.
Externí odkaz:
https://doaj.org/article/b79fbbfd33ea4996851afbb74dc44821
Autor:
Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)
A comprehensive biophysical analysis of disease-associated mutations in the voltage-gated sodium channel gene, SCN2A, suggests that dynamic action potential clamp may be a better predictor than voltage clamp of how these mutations alter neuronal exci
Externí odkaz:
https://doaj.org/article/7e36edaad8f740ddbb8634f082580efc
Autor:
Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir
Publikováno v:
Epilepsia Open, Vol 7, Iss 1, Pp 170-180 (2022)
Abstract Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early‐infantile (
Externí odkaz:
https://doaj.org/article/7efeca282aac4086b400d32feaada124