Results 181 to 190 of about 352,372 (280)

Reality Winners

Critical Quarterly, EarlyView.
Lee Grieveson
wiley   +1 more source

Medication‐resistant epilepsy is associated with a unique gut microbiota signature

Epilepsia, EarlyView.
Abstract Objective Dysfunction of the microbiota–gut–brain axis is emerging as a new pathogenic mechanism in epilepsy, potentially impacting on medication response and disease outcome. We investigated the composition of the gut microbiota in a cohort of medication‐resistant (MR) and medication‐sensitive (MS) pediatric patients with epilepsy.
Antonella Riva, Eray Sahin, Greta Volpedo, Noemi Teresa Catania, Isabel Venara, Valentina Biagioli, Ganna Balagura, Elisabetta Amadori, Carmen De Caro, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Federico Zara, Osman Ugur Sezerman, Emilio Russo, Pasquale Striano   +14 more
wiley   +1 more source

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. [PDF]

, 2020
Ammous, Z, Biderman Waberski, M, Brigatti, KW, Cohen, JS, Comi, AM, Elbendary, HM, Eslahi, A, Genomics, QS, Gleeson, J, Hosny, H, Houlden, H, Marafi, D, Maroofian, R, Mojarrad, M, Person, RE, Poskitt, L, Puffenberger, E, Riazuddin, S, Riazuddin, S, Rosenfeld, JA, Salpietro, V, Scala, M, Shahzad, M, Stanley, V, Usmani, MA, Williams, KB, Xia, F, Zaki, MS   +27 more
core   +2 more sources

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue‐based and cell‐based assays

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe a case series of Brazilian new onset refractory status epilepticus (NORSE) patients and evaluate the sensitivity and specificity of a clinical score to predict cryptogenic etiology (c‐NORSE score) after autoimmune encephalitis (AE) testing.
João Henrique Fregadolli Ferreira, Anna Maria Gomes, Ana Carolina Zetehaku, Taissa Ferrari Marinho, Fabio Fieni Toso, Caio César Diniz Disserol, Mariana Braatz Krueger, Mara Lúcia Schmitz Ferreira Santos, Aline Freire Borges Juliano, Tércio Luz Barbosa, Letícia Januzi de Almeida Rocha, Fernando Tenório Gameleira, Renata Barbosa Paolilo, Vanessa Daccach, João Pedro Izidoro Gomes, Katia Lin, Adaucto Wanderley da Nóbrega Jr., Emily Lima Marmentini, Eduardo Ferracioli Fusão, Anderson de Cuffa, Georgia Lelis Aranha Tavares, Ronaldo Maciel Dias, Sabrina Stephanie Lana Diniz, Fábio Siquineli, Pedro Braga‐Neto, Paulo Ribeiro Nobrega, Lorena Pitombeira Sanders, Fernanda Martins Maia Carvalho, Renata Brasileiro Reis Pereira, Eduardo Sousa de Melo, Adélia Maria de Miranda Henriques‐Souza, Clecio de Oliveira Godeiro Jr., Omar Gurrola Arambula, Filipe Nolasco de Souza e Silva, Karla Oliveira Couto, Dayane Danieli, Katia Werneck Seitz, Alessandra Dellavance, Verena Endmayr, Romana Höftberger, Luis Eduardo Coelho Andrade, Luis Otavio Caboclo, Livia Almeida Dutra   +42 more
wiley   +1 more source

Association between maternal folate levels and febrile seizures in early childhood from the Japan Environment and Children's Study. [PDF]

Sci Rep
Tokunaga S, Shimomura H, Okuda M, Taniguchi Y, Taniguchi N, Fujino T, Shima M, Takeshima Y, Japan Environment and Children’s Study (JECS) Group.   +8 more
europepmc   +1 more source

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Neurology, 2017
R. Møller, Thomas V. Wuttke, I. Helbig, C. Marini, K. Johannesen, E. Brilstra, U. Vaher, I. Borggraefe, I. Talvik, T. Talvik, G. Kluger, Laurence L Francois, G. Lesca, J. de Bellescize, S. Blichfeldt, N. Chatron, N. Holert, J. Jacobs, M. Swinkels, C. Betzler, S. Syrbe, M. Nikanorova, Candace T. Myers, Line H. G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, S. von Spiczak, Sarah Hopkins, Holly A. Dubbs, Y. Mang, K. Mukhin, H. Holthausen, K. V. van Gassen, H. A. Dahl, N. Tommerup, H. Mefford, G. Rubboli, R. Guerrini, J. Lemke, H. Lerche, H. Muhle, S. Maljevic   +41 more
semanticscholar   +1 more source

Risk of epilepsy in neonates with seizures

Developmental Medicine &Child Neurology, EarlyView.
Lakshmi Nagarajan
wiley   +1 more source

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

Epilepsia, EarlyView.
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin‐Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Geneviève Bernard, Ralitza Gavrilova, Rebecca Ahrens‐Nicklas, Gabrielle Lemire, Kym M. Boycott, Saadet Mercimek‐Andrews, Paolo Prontera, Cinzia Costa, Bojana Rakic, Cornelius F. Boerkoel, Stephanie Huynh, Linda Huh, Elliott Sherr, Emanuela Argilli, Juan Darío Ortigoza‐Escobar, Didac Casas‐Alba, Tania Nunes, David A. Koolen, Konrad Platzer, Marianne S. Khinchi, Elena Gardella, Christina D. Fenger, Rikke S. Møller, Allan Bayat   +28 more
wiley   +1 more source

Clinical and neuroimaging features of patients with claustrum sign. [PDF]

Front Neurol
Zhao C, Zhang M, Zhang Q, Bao X.
europepmc   +1 more source

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

Epilepsia, EarlyView.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H. Caraballo, Marco Perulli, Patrick B. Moloney, Javier Peña‐Ceballos, Marica Rubino, Katarzyna M. Mieszczanek, Andrea Santangelo, Laura Licchetta, Valentina De Giorgis, Gabriela Reyes Valenzuela, Susanna Casellato, Elisabetta Cesaroni, Francesca F. Operto, Jana Domínguez‐Carral, Alia Ramírez‐Camacho, Alessandro Ferretti, Giuseppe Santangelo, Angel Aledo‐Serrano, Andrea Rüegger, Maria M. Mancardi, Giulia Prato, Antonella Riva, Luca Bergonzini, Duccio M. Cordelli, Paolo Bonanni, Francesca Bisulli, Giancarlo Di Gennaro, Sara Matricardi, Pasquale Striano, Norman Delanty, Carla Marini, Domenica Battaglia, Carlo Di Bonaventura, Georgia Ramantani, Elena Gardella, GENE‐CBD Study Group, Alessandro Orsini, Antonietta Coppola, Alessandra Morano, Nicola Simeone, Claudia Cuccurullo, Massimo Scacciati, Alice Bonuccelli, Maddalena Bianchetti, Alberto Verrotti, Marta Piccioli, Massimiliano Celario, Elena Tartara, Giulia Balletto, Chiara Bagliani, Beatriz Gonzalez Giraldez, Pasquale Parisi, Carmen Salluce, Emanuele Bartolini, Maria Del Carmen Fons‐Estupiña, Federico Ramos, Alberto Danieli, Alessandra Rossi, Elisabetta Pantaloni, Ana Laura Fernandez‐Perrone, Giorgio Magli, Ilaria Onida, Giulia Bruschi, Lorenzo Muccioli, Tomasz S. Mieszczanek, Trine Hammer, Francesca Furia   +68 more
wiley   +1 more source