Results 241 to 250 of about 53,382 (296)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

A consensus roadmap for post‐traumatic epilepsy: Clinical biomarkers, research priorities, policy barriers, and pathways to interventional trials

Epilepsia, EarlyView.
Abstract Understanding the mechanisms underlying post‐traumatic epilepsy (PTE) following traumatic brain injury (TBI), and developing strategies to prevent or modify its progression, has been the focus of large collaborative efforts within the epilepsy and TBI research communities for over a decade.
Elisa R. Zanier, Ilaria Lisi, Elaine K. O'Loughlin, Federico Moro, Edilberto Amorim, David L. Brody, Daniel J. Correa, Dominique Duncan, Pavel Klein, Firas H. Kobeissy, Wolfgang Löscher, Edward J. Needham, Asla Pitkänen, Mary Jo Pugh, Jack Somers, Annamaria Vezzani, Amy K. Wagner, Laura S. Lubbers, International Conference on PTE Attendees, Denes Agoston, Edilberto Amorim, Sneha Anand, Hibah Awwad, Ginevra Bayon, Naima Belhachemi, Akash Bera, Costanza Bertani, Guido Bertolini, David L. Brody, Serena Brusatori, Francesca Buffelli, Aurora Chiapperini, Mara Chioccola, Severn Churn, Daniel J. Correa, Ramon Diaz‐Arrastia, Chris Dulla, Dominique Duncan, Chiara Ferlito, Aristea Galanopoulou, Angela Galic, Heidi Matos Galicia, Bin Gu, William Haskins, Victoria Johnson, Nigel Jones, Lowie Joseph, Pavel Klein, Firas Kobaissy, Ilaria Lisi, David Loane, Luther Loose, Laura S. Lubbers, Wolfgang Löscher, Edoardo Mazzone, Melissa Miller, Federico Moro, Edward J. Needham, Irma Wati Ngadimon, Terence O’Brien, Elaine K. O’Loughlin, Asla Pitkanen, Mary Jo Pugh, Teresa Giovanna Ravizza, Giuseppe Remuzzi, Massimo Rizzi, Rossella Di Sapia, Tawfeeq Shekh‐Ahmad, Doug Smith, Jack Somers, Kevin Staley, Francesca Tribuzio, Alexandra Ulyanova, Gloria Vegliante, Annamaria Vezzani, Joost Wagenaar, Amy K. Wagner, Kevin W. Wang, Justin Weppner, Peter J. West, Karen Wilcox, John Wolf, Elisa R. Zanier   +82 more
wiley   +1 more source

Sodium‐glucose cotransporter 2 inhibitors and the risk of late onset epilepsy: A real‐world cohort study

Epilepsia, EarlyView.
Abstract Objective Late onset epilepsy (LOE) is associated with substantial morbidity. Sodium‐glucose cotransporter 2 inhibitors (SGLT2i) may exert neuroprotective effects. This study evaluated the association between SGLT2i and risk of LOE among older adults with type 2 diabetes mellitus.
Bing‐Hua Lin, Hui‐Min Huang, Hui‐An Lin, Sheng‐Feng Lin   +3 more
wiley   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda, Hirotomo Saitsu   +3 more
wiley   +1 more source

Mental health of children with epilepsy in Ukraine during the war

Epilepsia, EarlyView.
Abstract Objective The ongoing conflict in Ukraine has created a severe humanitarian crisis, disproportionately affecting vulnerable populations such as children with chronic conditions. We set out to determine information about mental health in children with epilepsy in Ukraine affected by the conflict.
Volodymyr Kharytonov, J. Helen Cross, Andriy Dubenko, Samuel Wiebe, on behalf of the ILAE Emergency Task Force for Ukraine   +4 more
wiley   +1 more source

High frequency deep brain stimulation of the hippocampus in a rat model for temporal lobe epilepsy [PDF]

, 2006
Boon, Paul, CLAEYS, P, De Smedt, Tim, Leybaert, Luc, Mabilde, Cyriel, Raedt, Robrecht, Van den broecke, Caroline, Wadman, Wytse, Waterschoot, Liesbeth, Wyckhuys, Tine   +9 more
core   +1 more source

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature. [PDF]

Mol Genet Genomic Med
Muhammad A, Ramzan S, Yousaf H, Ghumman RZ, Ali FB, Khalily MA, Ali A, Ali W, Zia S, Khan NU, Sarwar MT, Toft M, Iqbal Z, Fatima A.   +13 more
europepmc   +1 more source

Efficacy of intravenous immunoglobulin in children with drug-resistant epilepsy. [PDF]

Front Neurol
Ebdalla A, Scantlebury MH, Appendino JP, Ho A, Jacobs J.   +4 more
europepmc   +1 more source