Results 61 to 70 of about 2,313,927 (417)

Pharmacological Characterization of an Antisense Knockdown Zebrafish Model of Dravet Syndrome: Inhibition of Epileptic Seizures by the Serotonin Agonist Fenfluramine

PLoS ONE, 2015
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene are responsible for over 80% of DS cases.
Yifan Zhang, A. Kecskés, Daniëlle Copmans, M. Langlois, A. Crawford, B. Ceulemans, L. Lagae, P. D. de Witte, Camila V. Esguerra   +8 more
semanticscholar   +1 more source

Epilepsy-Induced High Affinity Blockade of the Cardiac Sodium Current I_Na by Lamotrigine; A Potential for Acquired Arrythmias

Pharmaceuticals, 2022
Lamotrigine is widely prescribed to treat bipolar neurological disorder and epilepsy. It exerts its antiepileptic action by blocking voltage-gated sodium channels in neurons.
Juan Antonio Contreras Vite, Carlos Vega Valle, Happi Biekeu Mbem, Sarah-Maude Boivin, Robert Dumaine   +4 more
doaj   +1 more source

Comparative study of nonlinear properties of EEG signals of a normal person and an epileptic patient [PDF]

Nonlinear Biomedical Physics 2009, 3:6, 2007
Background: Investigation of the functioning of the brain in living systems has been a major effort amongst scientists and medical practitioners. Amongst the various disorder of the brain, epilepsy has drawn the most attention because this disorder can affect the quality of life of a person.
arxiv   +1 more source

The syndrome of isolated epileptic status [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1971
Within a group of 23 patients who presented with status epilepticus a syndrome is defined in which sudden unheralded status occurs in apparently healthy individuals. Recovery from the attack is complete and no other evidence of cerebral pathology may be found at the time.
C. W. M. Whitty, J. M. Oxbury
openaire   +2 more sources

Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]

, 2017
BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M, Finno, CJ, Penedo, MCT, Weich, K   +3 more
core   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Epileptic high-frequency network activity in a model of non-lesional temporal lobe epilepsy [PDF]

, 2010
High-frequency cortical activity, particularly in the 250–600 Hz (fast ripple) band, has been implicated in playing a crucial role in epileptogenesis and seizure generation. Fast ripples are highly specific for the seizure initiation zone.
Cmejla, Roman, Finnerty, Gerald T, Jefferys, John G R, Jiruska, Premysl, Lofti, Noosheen, Powell, Andrew D   +5 more
core   +3 more sources

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe [PDF]

, 2015
In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which ...
A Fischer, A Khoutorsky, A Tipold, AJ Streeter, AJ Wilensky, AK Cook, Akos Pakozdy, AM Kiviranta, Andrea Fischer, Andrea Tipold, B Dayrell-Hart, BF Bourgeois, C O'Dell, C Rundfeldt, C Rundfeldt, CH Gulløv, CL Gaskill, CL Gaskill, Clare Rusbridge, CW Dewey, CW Dewey, CW Dewey, D Ruehlmann, D Schwartz-Porsche, DJ Morton, DM Boothe, DM Boothe, DW Chadwick, DW Kaufman, Edward E. Patterson, EE Patterson, ES Nichols, F Al-Tahan, G Hussein, G Jacobs, GC Farnbach, GD Montouris, GD Thurman, GJ Sills, GW Caldwell, H Freitag, HA Volk, HE Baird-Heinz, Heidrun Potschka, HH Frey, HH Frey, HM Wright, Holger A. Volk, HS White, IC Wong, IE Leppik, IH Shaik, J Janszky, J Speciale, J Weissl, Jacques Penderis, JJ Shih, JJ Shih, JM Pellock, JT Yarrington, JY Chung, K Orito, KA Lyseng-Williamson, Karen Muñana, Kaspar Matiasek, KL Weiss, KR Muñana, KR Muñana, KR Muñana, L Alves, L Risio De, LA Trepanier, LA Trepanier, LA Trepanier, LA Trepanier, LD Cahan, LJ Stephen, LL Radulovic, Luisa De Risio, M Berendt, M Berendt, M Bialer, M Charalambous, M Govendir, M Podell, M Podell, M Podell, M Podell, M Schwartz, M Taverna, M1 Contin, MA Rogawski, Mette Berendt, MFD Steinberg, Michael Podell, ML Miller, N Scola, P Jull, P Kwan, PA March, PA March, Paul J.J. Mandigers, PB Müller, PN Patsalos, R Monteiro, RD Elterman, RE Levitski, RM Packer, Robyn G. Farquhar, RS Hess, S Daminet, S Rieck, S Shorvon, SA Kube, SA Moore, SA Moore, Sam Long, SD Forrester, SD Shorvon, SE Bunch, SE Martinez, SI Johannessen, Simon Platt, SM Roche La, SO Wagner, Sofie F.M. Bhatti, SR Platt, T Glauser, T Hojo, T Klopmann von, T Klopmann von, TA Glauser, TL Gieger, TL Gieger, TP Sutula, V Hülsmeyer, V Salazar, VE Adusumalli, Veronika M. Stein, W Löscher, W Löscher, WB Thomas, WB Thomas, WM Pedersoli, Wolfgang Löscher, WR Garnett, WR Ravis, WR Ravis, Y Heynold   +148 more
core   +16 more sources

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources