Results 51 to 60 of about 5,459 (165)
Genetic testing among patients evaluated for epilepsy surgery
Epileptic Disorders, EarlyView.Abstract Objective
Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen +7 morewiley +1 more sourceEye movement disorders are an early manifestation of CACNA1A mutations in children
, 2016 Free to read at publisher\ud
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The alpha-1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia Menezes, Manoj P., Tantsis, Esther M., Troedson, Christopher, Riant, Florence, Gupta, Sachin, Smith, Robert, Gill, Deepak, Griffiths, Lyn, Ouvrier, Robert, Maksemous, Neven, Webster, Richard, Lawson, John +11 morecore +1 more sourceA voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
PLoS Biology, 2015 Autophagy helps deliver sequestered intracellular cargo to lysosomes for proteolytic degradation and thereby maintains cellular homeostasis by preventing accumulation of toxic substances in cells.Xuejun Tian, Upasana Gala, Yongping Zhang, Weina Shang, Sonal Nagarkar Jaiswal, Alberto di Ronza, Manish Jaiswal, Shinya Yamamoto, Hector Sandoval, Lita Duraine, Marco Sardiello, Roy V Sillitoe, Kartik Venkatachalam, Hengyu Fan, Hugo J Bellen, Chao Tong +15 moredoaj +1 more sourceEpilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids
Epilepsia, EarlyView.Abstract Objective
SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods
Using a human male induced pluripotent stem Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang +26 morewiley +1 more sourceOligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt +192 morewiley +1 more sourceAbsence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...Ozlem Akman, Filiz Onatwiley +1 more sourceArtificial intelligence in preclinical epilepsy research: Current state, potential, and challenges
Epilepsia Open, EarlyView.Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou +7 morewiley +1 more sourceThe genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Epilepsia Open, EarlyView.Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano +4 morewiley +1 more sourceNovel CACNA1A mutation(s) associated with slow saccade velocities [PDF]
, 2018 Mutations in the voltage-gated Cav2.1 P/Q-type calcium channel (CACNA1A) can cause a wide spectrum of phenotypes, including the episodic ataxia type 2.Gutbrod, Klemens, Jung, Simon, Kipfer, Stefan, Abicht, Angela, Nyffeler, Thomas, Howell, Jeremy, Lemke, Johannes, Kipfer-Kauer, Anna, Kaelin-Lang, Alain, Müri, René +9 morecore
