Results 221 to 230 of about 349,129 (310)
Maternal and umbilical cord plasma concentrations of antiseizure medications: Results from the observational MONEAD study
Epilepsia, EarlyView.Abstract Objective
Unanticipated changes in antiseizure medication (ASM) exposure can lead to subtherapeutic or toxic medication concentrations in the mother and unnecessary drug exposure for the fetus. The objectives of this study were to characterize ASM concentrations in mother's and cord blood at delivery in women with epilepsy (PWWE).Charul Avachat, Kimford J. Meador, Page B. Pennell, Angela K. Birnbaum, MONEAD Investigator Group, Delmaris Acosta‐Cotte, Sandra Alhaj, Stephanie Allien, Taimur Anwar, Anto Bagic, Gregory L. Barkley, Donald Bearden, Susan Beers, Irena Bellinski, Christin Bermudez, Kristina Blessing, Katrina Boyer, Camilla Casadei, Patricia Chang, Li Chen, Andrea Cheng‐Hakimian, Melanie Choe, Kirsten Cleary, Tobi Clements, Joseph Coda, Pam Coe, Jules Constantinou, Yael Cukier Cukier, Danielle Culbreth, Elizabeth Cunningham, Kayla Darris, Lisa Davis, Rosemarie Delucca, Jennifer DeWolfe, Jessica Dimos, Mary Dolan, Maurice Druzin, Joyce Echo, Sarah Ellis, Pedro Figueredo, Richard Finnell, Kellie Flood‐Schaffer, Jacqueline French, Mark Friedman, Shailaja Gaddam, Satya Gedela, Elizabeth Garard, Christine Ghilian, William Grobman, Cheryl Hall, Ellen Hanson, Jacqueline Helcer Helcer, Paige Hickey, Gregory Holmes, Theresa Holmes, Dominic Ippolito, George Jewell, Arundhathi Jeyabalan, Emily Johnson, Michelle Kim, Gregory Krauss, Casey Krueger, David Labiner, Hadley Lange, Erin Latif, Connie Lau Lau, Shari Lawson, Brenda Leung, William MacAllister, James Maciulla, Hayley Madeiros, Nazin Mahmood, Jennie Mao, Ryan May, Paul McCabe, Frederick T. McElrath, Erica Meltzer Meltzer, Lucy Mendoza, Emily Miller, John W. Miller, Michelle Miranda, Jennifer Moon, Eugene Moore, Melissa Morris, Chris Morrison, Lorene Nelson, Melanee Newman, Alisha Olson, Kim Ono, John Owen, Alison Pack, Michael Paglia, Yong Park, Lamar Parker, Christina Patterson, Sonia Perez, Jenny Pohlman, Alison Pritchard, Michael Privitera, Krestin Radonovich, Patty Ray, Katie Reger, Gustavo Rey, Matthew Ryan, Yasin Salih, Carla Sandles, William Schweizer, Jordan Seliger, Enrique Serrano, Nilay Shah, Elizabeth Shashkova, Traci Sheer, Yvonne Sheldon, Rachel Sierra, Marianna Spanaki‐Varelas, Anna Steele, Jennifer Steele, Alice Stek, Zachary Stowe, Jolie Strauss, Suzanne Strickland, Melissa Sutcliffe, Hima Bindu Tam Tam, Diane Teagarden, Andrea Thomas, Matthew Thompson, Jeffery Tsai, Alexandra Urban, Linda Van Marter, Naymee Velez‐Ruiz, Yue Wang, Vibhangini Wasade, Taylor Weinau, Peter Wells, Carrie Wiles, Mark Yerby, Amy Young, Andrew Zillgitt, Annette Zygmunt +138 morewiley +1 more sourceAdiponectin and leptin levels in mothers, fetuses, and neonates with intrauterine growth restriction compared to those with appropriate gestational age. [PDF]
Front Endocrinol (Lausanne)Parveen N, Iqbal N, Mohamed AAA, Shahid SMA, Abdalla RAH, Elhussein GEMO, Azhar MA, Saleem M, Khan MS. +8 moreeuropepmc +1 more sourceNeonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies
Epilepsia, EarlyView.Abstract Objective
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller +43 morewiley +1 more sourceCompound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy
Epilepsia, EarlyView.Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina +19 morewiley +1 more sourceHigh incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy
Epilepsia, EarlyView.Abstract Objective
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann +13 morewiley +1 more source