Results 111 to 120 of about 3,547 (200)

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  

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
core  

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

JIMD Reports, 2019
Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg   +10 more
doaj   +1 more source

Epilepsy in Pakistan: national guidelines for clinicians (part 2) [PDF]

, 2015
In 2013 an international taskforce of the ILAE shaped out a communal definition of Epilepsy.(2) This definition is useful for all or most practical purposes, thus more helpful in management.
Akhter, Wasim, Ali, Shaukat, Barech, Saleem, Jooma, Rasheed, Majid, Haris, Malik, Abdul, Mustafa, Shahid, Sheerani, Mughis, Siddiqi, Fowzia, Siddiqi, Sarwar, Sultan, Tipu, Zaheer, Mohsin   +11 more
core   +5 more sources

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2023
Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T.   +7 more
europepmc   +1 more source

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Design and rationale of a 16-week adjunctive randomized placebo-controlled trial of mitochondrial agents for the treatment of bipolar depression

, 2014
Objective: Bipolar disorder places a significant burden on individuals, caregivers and family, and the broader community. Current treatments are believed to be more effective against manic symptoms, leaving a shortfall in recovery during the depressive ...
Berk, Michael, Cotton, Sue M, Dean, Olivia M, Dodd, Seetal, Dowling, Nathan, Malhi, Gin S, Ng, Chee, Samuni, Yuval, Sarris, Jarome, Smith, Deidre, Tanious, Michelle, Turner, Alyna, Waterdrinker, Astrid   +12 more
core   +2 more sources

A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy [PDF]

Annals of Child Neurology, 2022
Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +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
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Pyridoxine Dependent Epilepsy: Enduring Mystery and Continuing Challenges [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Prasad, Asuri, Prasad, Chitra
openaire   +3 more sources