Results 61 to 70 of about 14,898 (265)

The human photosensitive epilepsy model for clinical proof‐of‐principle trials of novel antiseizure medications. 1. Use of the EEG in drug development and characteristics of the model

Epilepsia, EarlyView.
Abstract Clinical development of novel antiseizure medications (ASMs) would benefit from an early proof‐of‐principle (POP) model. The photosensitivity model, which uses the photoparoxysmal electroencephalography (EEG) response (PPR) as a surrogate for seizures, is currently the only human model that allows POP trials of investigational compounds after ...
Dorothée Kasteleijn‐Nolst Trenité, Wolfgang Löscher   +1 more
wiley   +1 more source

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism [PDF]

, 2015
SummaryABAT is a key enzyme responsible for catabolism of principal inhibitory neurotransmitter γ-aminobutyric acid (GABA). We report an essential role for ABAT in a seemingly unrelated pathway, mitochondrial nucleoside salvage, and demonstrate that ...
Besse, Arnaud, Bonnen, Penelope E., Bruni, Francesco, Craigen, William J., Donti, Taraka, Graham, Brett H., Lalani, Seema, McFarland, Robert, Moretti, Paolo, Scott, Kenneth L., Taylor, Robert W., Wu, Ping   +11 more
core   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 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

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

Epilepsia, EarlyView.
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar   +15 more
wiley   +1 more source

Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse

Annals of Clinical and Translational Neurology, 2015
Recent findings in mice with targeted deletion of the GABA‐metabolic enzyme succinic semialdehyde dehydrogenase revealed a new role for supraphysiological GABA (4‐aminobutyric acid) in the activation of the mechanistic target of rapamycin (mTOR) that ...
K. Vogel, G. Ainslie, E. Jansen, G. Salomons, K. Gibson   +4 more
semanticscholar   +1 more source

Effect of Primidone on Dentate Nucleus γ-Aminobutyric Acid Concentration in Patients With Essential Tremor [PDF]

, 2016
OBJECTIVES: It is not known whether current use of the medication primidone affects brain γ-aminobutyric acid (GABA) concentrations. This is an important potential confound in studies of the pathophysiology of essential tremor (ET), one of the most ...
Dydak, Ulrike, Dyke, Jonathan P., Hernandez, Nora, Louis, Elan D., Ma, Ruoyun   +4 more
core   +1 more source

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

Epilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang, Jana Domínguez‐Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Hilgo Bruining, Kirill A. Martemyanov, Klaus Linkenkaer‐Hansen, Juan Dario Ortigoza‐Escobar   +8 more
wiley   +1 more source

Vigabatrin's Complicated Journey—To be or Not to Be? [PDF]

Epilepsy Currents, 2009
Visual Fields at School-Age in Children Treated with Vigabatrin in Infancy. Gaily E, Jonsson H, Lappi M. Epilepsia 2009;50(2):206–216. PURPOSE: The use of vigabatrin (VGB) as an antiepileptic drug (AED) has been limited by evidence showing that it causes vigabatrin-attributed visual field loss (VAVFL) in at least 20–40% of patients exposed at school ...
openaire   +3 more sources

Clinical Pharmacology & Therapeutics: Past, Present, and Future. [PDF]

, 2017
Clinical Pharmacology & Therapeutics (CPT), the definitive and timely source for advances in human therapeutics, transcends the drug discovery, development, regulation, and utilization continuum to catalyze, evolve, and disseminate discipline ...
Terzic, Andre, Waldman, Scott A.
core   +2 more sources