Results 81 to 90 of about 11,941 (202)

PAC‐FOS: A novel translational concordance framework identifies preclinical seizure models with highest predictive validity for clinical focal onset seizures

Epilepsia, EarlyView.
Abstract Objective Central to the development of novel antiseizure medications (ASMs) is testing of antiseizure activity in preclinical models. Although various well‐established models exist, their predictive validity across the spectrum of clinical epilepsies has been less clear.
Lyndsey L. Anderson, Kristopher M. Kahlig, Melissa L. Barker‐Haliski, Lillian G. Matthews, Hamish D. Toop, Brian Hannigan, Jacqueline French, H. Steve White, Marcio Souza, Steven Petrou   +9 more
wiley   +1 more source

Plagiarism penalties [PDF]

, 2015
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core   +1 more source

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. [PDF]

, 2019
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterized by benign tumors in multiple organs, including the skin, brain, kidneys, and lungs and occasional malignant tumors.
Adriaensen, Amin, Bissler, Black, Bombardieri, Breckenridge, Capal, Crino, Curatolo, Curatolo, Curatolo, Curatolo, De Vries, Franz, French, Jansen, Jansen, Johnson, Jóźwiak, Jóźwiak, Jóźwiak, Kingswood, Kingswood, Kingswood, Koenig, Krueger, Northrup, O'Callaghan, Roth, Sampson, Shepherd, Whitney, Wu   +32 more
core   +5 more sources

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

Epilepsia, EarlyView.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol   +18 more
wiley   +1 more source

Subchronic treatment with antiepileptic drugs modifies pentylenetetrazol-induced seizures in mice: Its correlation with benzodiazepine receptor binding

Neuropsychiatric Disease and Treatment, 2008
Luisa RochaPharmacobiology Department, Center for Research and Advanced Studies, Calz, Tenorios, MéxicoAbstract: Experiments using male CD1 mice were carried out to investigate the effects of subchronic (daily administration for 8 days ...
Luisa Rocha
doaj  

Infantile Spasms Consensus Report

Pediatric Neurology Briefs, 2010
An Infantile Spasms Working Group (ISWG) of 14 pediatric neurologists with expertise in IS participated in a 2-day workshop to discuss 1) the current state of IS management, 2) the evidence for efficacy of ACTH and vigabatrin (VGB), approved in the US in
J Gordon Millichap
doaj   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in Neuroscience, 2019
Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine analyses typically utilized for the diagnosis of inborn errors of metabolism.
Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea   +13 more
doaj   +1 more source

Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis

Epilepsia, EarlyView.
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi, Haruka Ishibashi, Yukako Nakagami, Yoko Kobayashi Takahashi, Takato Akiba, Masaharu Miyauchi, Naohiro Yamamoto, Ryoichi Inoue, Satoshi Kodama, Takafumi Kubota, Naoto Kuroda   +10 more
wiley   +1 more source

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men [PDF]

, 2009
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, ataxia, sleep disorders, and ...
A Buzzi, A Gropman, A Shao, BM Hogema, C Yalçinkaya, C. Jakobs, CJ Landmark, GL Krauss, GM Chowdhury, I Arnulf, I Knerr, I Knerr, I. Knerr, J. M. Pettiford, K Ergezinger, K Nylen, K. Forester, K. M. Gibson, KM Gibson, LS Stewart, M Gupta, M Gupta, M Qiao, M. A. Cortez, MA Al-Essa, MA Cortez, MT Acosta, O. Carter Snead, P. L. Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, R Scherschlicht, RG Peyster, S Vanhatalo, S Ziyeh, SJ Spence, SW Sauer, T Ethofer, T Shinka, V Leuzzi, W Froestl, W. H. Theodore, WH Butler, Y Wu, Y. Wu   +48 more
core   +1 more source