Results 131 to 140 of about 3,724 (217)

2025 ACVIM Forum Research Abstract Program

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
wiley   +1 more source

Refractory seizures in a term neonate due to pyridoxine dependent epilepsy [PDF]

, 2017
Gregory C. Valentine, Ariel M. Lyons‐Warren, Elaine Seto, Jonathan Davies   +3 more
openalex   +1 more source

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 [PDF]

, 2017
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared
Avanzini, Giuliano, Balschun, Tobias, Baulac, Stephanie, Baykan, Betul, Bebek, Nerses, Becker, Felicitas, Becker, Tim, Bellows, Susannah, Berkovic, Samuel F., Bianchi, Amedeo, Caglayan, Hande, Capovilla, Giuseppe, Crichiutti, Giovanni, de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G.F., Dibbens, Leanne M., Elger, Christian E., Ellinghaus, David, Everett, Kate V., Feucht, Martha, Franke, Andre, Gambardella, Antonio, Gardiner, Mark R., Gaus, Verena, Gieger, Christian, Guerrero, Rosa, Guerrini, Renzo, Guipponi, Michel, Helbig, Ingo, Hempelmann, Anne, Hjalgrim, Helle, Janz, Dieter, Jordanova, Albena, Kapser, Claudia, Kasteleijn-Nolst Trenité, Dorothée, Kleefuß-Lie, Ailing A., Koeleman, Bobby P.C., Kunz, Wolfram S., La Neve, Angela, Leber, Markus, Leguern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lindhout, Dick, Malafosse, Alain, Marini, Carla, Meesters, Christian, Muhle, Hiltrud, Mullen, Saul, Mörzinger, Martina, Møller, Rikke S., Nabbout, Rima, Nürnberg, Peter, Oliver, Karen, Ostertag, Philipp, Ozbek, Ugur, Pauck, Steffen M., Reif, Philipp S., Robbiano, Angela, Rosenow, Felix, Ruppert, Ann-Kathrin, Rüschendorf, Franz, Sander, Thomas, Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schulz, Herbert, Serratosa, Jose M., Siren, Auli, Smets, Katrin, Steffens, Michael, Steinhoff, Bernhard J., Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Surges, Rainer, Thomas, Pierre, Tinuper, Paolo, Toliat, Mohammad R., Trucks, Holger, von Spiczak, Sarah, Weber, Yvonne G., Wichmann, Heinz-Erich, Wienker, Thomas F., Yalcin, Destina A., Yapici, Zuhal, Zara, Federico, Zimprich, Fritz   +89 more
core  

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2022
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium.   +23 more
europepmc   +1 more source

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2023
Crowther LM, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, Mathis D, Plecko B.   +7 more
europepmc   +1 more source

Morphine modulates the effects of histamine H1 and H3 receptors on seizure susceptibility in pentylenetetrazole-induced seizure model of mice [PDF]

, 2015
Histamine regulates release of neurotransmitters such as dopamine, serotonin, gamma-aminobutyric acid (GABA), glutamate and also is involved in several functions in central nervous system (CNS).
Alijanpour, Sakineh., Amini-Khoei, Hossein., Amiri, Shayan., Dehpour, Ahmad Reza., Ejtemaie Mehr, Shahram., Gooshe, Maziar., Haj-Mirzaian, Arya., Hassanipour, Mahsa., Rahimi-Balaei, Maryam., Shirzadian, Armin.   +9 more
core  

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

Annals of the Child Neurology Society
Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen   +6 more
doaj   +1 more source

Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon?

Applied Sciences
Epileptic and developmental encephalopathies (EDEs) are a group of severe, genetically various neurological conditions characterized by early-onset seizures and developmental impairments.
Raffaele Falsaperla, Vincenzo Sortino, Piero Pavone   +2 more
doaj   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Genetic control of drug metabolism and drug action in man [PDF]

, 1985
The study of genetic factors that modify the individual response to drugs, referred to as "pharmacogenetics" is relatively new field, a discipline at the interface between genetic and clinical pharmacology.
Raghupati Sarma, G
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