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Engineers drive new directions in translational epilepsy research

Brian Litt

doi : 10.1093/brain/awac375

Brain, Volume 145, Issue 11, November 2022, Pages 3725–3726

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The lower motor neuron homunculus

John Ravits, Julia Stack

doi : 10.1093/brain/awac310

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Repetitive TMS applied to the precuneus stabilizes cognitive status in Alzheimer’s disease

Zahra Moussavi

doi : 10.1093/brain/awac322

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How does foetal exposure to valproate produce adverse neurodevelopmental outcomes?

Kimford J Meador, Yi Li

doi : 10.1093/brain/awac374

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Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?

Nishant Sinha

doi : 10.1093/brain/awac373

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Inflammatory brain injury after severe viral infection is not unique to COVID-19

Angelika Bauer, Markus Reindl

doi : 10.1093/brain/awac368

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Vestibular migraine treatment: a comprehensive practical review

Duncan Smyth, Zelie Britton, Louisa Murdin, Qadeer Arshad, Diego Kaski

doi : 10.1093/brain/awac264

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Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?

Andrew T Hale, Aswin Chari, Rod C Scott, J Helen Cross, Curtis J Rozzelle, Jeffrey P Blount, Martin M Tisdall

doi : 10.1093/brain/awac275

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Fear conditioning as a pathogenic mechanism in the postural tachycardia syndrome

Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Jose Martinez, Celeste Camargo, Horacio Kaufmann

doi : 10.1093/brain/awac249

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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie-Claire Vincent

doi : 10.1093/brain/awac280

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Precuneus magnetic stimulation for Alzheimer’s disease: a randomized, sham-controlled trial

Giacomo Koch, Elias Paolo Casula, Sonia Bonnì, Ilaria Borghi, Martina Assogna, Marilena Minei, Maria Concetta Pellicciari, Caterina Motta, Alessia D’Acunto, Francesco Porrazzini, Michele Maiella, Clarissa Ferrari, Carlo Caltagirone, Emiliano Santarnecchi, Marco Bozzali, Alessandro Martorana

doi : 10.1093/brain/awac285

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The human cognition-enhancing CORD7 mutation increases active zone number and synaptic release

Mila M Paul, Sven Dannhäuser, Lydia Morris, Achmed Mrestani, Martha Hübsch, Jennifer Gehring, Georgios N Hatzopoulos, Martin Pauli, Genevieve M Auger, Grit Bornschein, Nicole Scholz, Dmitrij Ljaschenko, Martin Müller, Markus Sauer, Hartmut Schmidt, Robert J Kittel, Aaron DiAntonio, Ioannis Vakonakis, Manfred Heckmann, Tobias Langenhan

doi : 10.1093/brain/awac011

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A demonstration of cone function plasticity after gene therapy in achromatopsia

Mahtab Farahbakhsh, Elaine J Anderson, Roni O Maimon-Mor, Andy Rider, John A Greenwood, Nashila Hirji, Serena Zaman, Pete R Jones, D Samuel Schwarzkopf, Geraint Rees, Michel Michaelides, Tessa M Dekker

doi : 10.1093/brain/awac226

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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle

doi : 10.1093/brain/awac210

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Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability

Rahel Feleke, Dana Jazayeri, Maya Abouzeid, Kim L Powell, Prashant K Srivastava, Terence J O’Brien, Nigel C Jones, Michael R Johnson

doi : 10.1093/brain/awac296

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Patient-derived antibodies reveal the subcellular distribution and heterogeneous interactome of LGI1

Jorge Ramirez-Franco, Kévin Debreux, Johanna Extremet, Yves Maulet, Maya Belghazi, Claude Villard, Marion Sangiardi, Fahamoe Youssouf, Lara El Far, Christian Lévêque, Claire Debarnot, Pascale Marchot, Sofija Paneva, Dominique Debanne, Michael Russier, Michael Seagar, Sarosh R Irani, Oussama El Far

doi : 10.1093/brain/awac218

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Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study

Hannah Spitzer, Mathilde Ripart, Kirstie Whitaker, Felice D’Arco, Kshitij Mankad, Andrew A Chen, Antonio Napolitano, Luca De Palma, Alessandro De Benedictis, Stephen Foldes, Zachary Humphreys, Kai Zhang, Wenhan Hu, Jiajie Mo, Marcus Likeman, Shirin Davies, Christopher Güttler, Matteo Lenge, Nathan T Cohen, Yingying Tang, Shan Wang, Aswin Chari, Martin Tisdall, Nuria Bargallo, Estefanía Conde-Blanco, Jose Carlos Pariente, Saül Pascual-Diaz, Ignacio Delgado-Martínez, Carmen Pérez-Enríquez, Ilaria Lagorio, Eugenio Abela, Nandini Mullatti, Jonathan O’Muircheartaigh, Katy Vecchiato, Yawu Liu, Maria Eugenia Caligiuri, Ben Sinclair, Lucy Vivash, Anna Willard, Jothy Kandasamy, Ailsa McLellan, Drahoslav Sokol, Mira Semmelroch, Ane G Kloster, Giske Opheim, Letícia Ribeiro, Clarissa Yasuda, Camilla Rossi-Espagnet, Khalid Hamandi, Anna Tietze, Carmen Barba, Renzo Guerrini, William Davis Gaillard, Xiaozhen You, Irene Wang, Sofía González-Ortiz, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Reetta Kälviäinen, Antonio Gambardella, Angelo Labate, Patricia Desmond, Elaine Lui, Terence O’Brien, Jay Shetty, Graeme Jackson, John S Duncan, Gavin P Winston, Lars H Pinborg, Fernando Cendes, Fabian J Theis, Russell T Shinohara, J Helen Cross, Torsten Baldeweg, Sophie Adler, Konrad Wagstyl

doi : 10.1093/brain/awac224

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NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

Philip H Iffland, II, Mariah E Everett, Katherine M Cobb-Pitstick, Lauren E Bowser, Allan E Barnes, Janice K Babus, Andrea J Romanowski, Marianna Baybis, Soad Elziny, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J Carson, Peter B Crino

doi : 10.1093/brain/awac044

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Stimulating native seizures with neural resonance: a new approach to localize the seizure onset zone

Rachel J Smith, Mark A Hays, Golnoosh Kamali, Christopher Coogan, Nathan E Crone, Joon Y Kang, Sridevi V Sarma

doi : 10.1093/brain/awac214

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Source-sink connectivity: a novel interictal EEG marker for seizure localization

Kristin M Gunnarsdottir, Adam Li, Rachel J Smith, Joon-Yi Kang, Anna Korzeniewska, Nathan E Crone, Adam G Rouse, Jennifer J Cheng, Michael J Kinsman, Patrick Landazuri, Utku Uysal, Carol M Ulloa, Nathaniel Cameron, Iahn Cajigas, Jonathan Jagid, Andres Kanner, Turki Elarjani, Manuel Melo Bicchi, Sara Inati, Kareem A Zaghloul, Varina L Boerwinkle, Sarah Wyckoff, Niravkumar Barot, Jorge Gonzalez-Martinez, Sridevi V Sarma

doi : 10.1093/brain/awac300

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The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping

William Matchin, Dirk-Bart den Ouden, Gregory Hickok, Argye E Hillis, Leonardo Bonilha, Julius Fridriksson

doi : 10.1093/brain/awac219

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The kappa free light chain index and oligoclonal bands have a similar role in the McDonald criteria

Georgina Arrambide, Carmen Espejo, Pere Carbonell-Mirabent, Romina Dieli-Crimi, Marta Rodríguez-Barranco, Mireia Castillo, Cristina Auger, Simón Cárdenas-Robledo, Joaquín Castilló, �lvaro Cobo-Calvo, Ingrid Galán, Luciana Midaglia, Carlos Nos, Susana Otero-Romero, Jordi Río, Breogán Rodríguez-Acevedo, Mariano Ruiz-Ortiz, Annalaura Salerno, Paula Tagliani, Carmen Tur, Angela Vidal-Jordana, Ana Zabalza, Jaume Sastre-Garriga, Alex Rovira, Manuel Comabella, Manuel Hernández-González, Xavier Montalban, Mar Tintore

doi : 10.1093/brain/awac220

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Validating visual evoked potentials as a preclinical, quantitative biomarker for remyelination efficacy

Christian Cordano, Jung H Sin, Garrett Timmons, Hao H Yiu, Karin Stebbins, Caroline Guglielmetti, Andres Cruz-Herranz, Wendy Xin, Daniel Lorrain, Jonah R Chan, Ari J Green

doi : 10.1093/brain/awac207

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Neurofilament light-associated connectivity in young-adult Huntington’s disease is related to neuronal genes

Peter McColgan, Sarah Gregory, Paul Zeun, Angeliki Zarkali, Eileanoir B Johnson, Christopher Parker, Kate Fayer, Jessica Lowe, Akshay Nair, Carlos Estevez-Fraga, Marina Papoutsi, Hui Zhang, Rachael I Scahill, Sarah J Tabrizi, Geraint Rees

doi : 10.1093/brain/awac227

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DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family

Fubo Cheng, Wenxu Zheng, Peter Antony Barbuti, Paola Bonsi, Chang Liu, Nicolas Casadei, Giulia Ponterio, Maria Meringolo, Jakob Admard, Claire Marie Dording, Libo Yu-Taeger, Huu Phuc Nguyen, Kathrin Grundmann-Hauser, Thomas Ott, Henry Houlden, Antonio Pisani, Rejko Krüger, Olaf Riess

doi : 10.1093/brain/awac001

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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

doi : 10.1093/brain/awab484

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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath

doi : 10.1093/brain/awac055

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Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons

Zhenyu Chen, Eric Chai, Yongchao Mou, Ricardo H Roda, Craig Blackstone, Xue-Jun Li

doi : 10.1093/brain/awab488

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Amyloid-β levels and cognitive trajectories in non-demented pTau181-positive subjects without amyloidopathy

Timo Jan Oberstein, Manuel Alexander Schmidt, Anna Florvaag, Anna-Lena Haas, Eva-Maria Siegmann, Pauline Olm, Janine Utz, Philipp Spitzer, Arnd Doerfler, Piotr Lewczuk, Johannes Kornhuber, Juan Manuel Maler

doi : 10.1093/brain/awac297

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Dopaminergic medication normalizes aberrant cognitive control circuit signalling in Parkinson’s disease

Weidong Cai, Christina B Young, Rui Yuan, Byeongwook Lee, Sephira Ryman, Jeehyun Kim, Laurice Yang, Victor W Henderson, Kathleen L Poston, Vinod Menon

doi : 10.1093/brain/awac007

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Associating Alzheimer’s disease pathology with its cerebrospinal fluid biomarkers

Claire Bridel, Charisse Somers, Anne Sieben, Annemieke Rozemuller, Ellis Niemantsverdriet, Hanne Struyfs, Yannick Vermeiren, Christine Van Broeckhoven, Peter P De Deyn, Maria Bjerke, Guy Nagels, Charlotte E Teunissen, Sebastiaan Engelborghs

doi : 10.1093/brain/awac013

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Multi-method investigation of factors influencing amyloid onset and impairment in three cohorts

Tobey J Betthauser, Murat Bilgel, Rebecca L Koscik, Bruno M Jedynak, Yang An, Kristina A Kellett, Abhay Moghekar, Erin M Jonaitis, Charles K Stone, Corinne D Engelman, Sanjay Asthana, Bradley T Christian, Dean F Wong, Marilyn Albert, Susan M Resnick, Sterling C Johnson, Alzheimer’s Disease Neuroimaging Initiative

doi : 10.1093/brain/awac213

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Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia

Kyan Younes, Valentina Borghesani, Maxime Montembeault, Salvatore Spina, Maria Luisa Mandelli, Ariane E Welch, Elizabeth Weis, Patrick Callahan, Fanny M Elahi, Alice Y Hua, David C Perry, Anna Karydas, Daniel Geschwind, Eric Huang, Lea T Grinberg, Joel H Kramer, Adam L Boxer, Gil D Rabinovici, Howard J Rosen, William W Seeley, Zachary A Miller, Bruce L Miller, Virginia E Sturm, Katherine P Rankin, Maria Luisa Gorno-Tempini

doi : 10.1093/brain/awac217

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Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses

Edward J Needham, Alexander L Ren, Richard J Digby, Emma J Norton, Soraya Ebrahimi, Joanne G Outtrim, Doris A Chatfield, Anne E Manktelow, Maya M Leibowitz, Virginia F J Newcombe, Rainer Doffinger, Gabriela Barcenas-Morales, Claudia Fonseca, Michael J Taussig, Rowan M Burnstein, Romit J Samanta, Cordelia Dunai, Nyarie Sithole, Nicholas J Ashton, Henrik Zetterberg, Magnus Gisslén, Arden Edén, Emelie Marklund, Peter J M Openshaw, Jake Dunning, Michael J Griffiths, Jonathan Cavanagh, Gerome Breen, Sarosh R Irani, Anne Elmer, Nathalie Kingston, Charlotte Summers, John R Bradley, Leonie S Taams, Benedict D Michael, Edward T Bullmore, Kenneth G C Smith, Paul A Lyons, Alasdair J Coles, David K Menon, Cambridge NeuroCOVID Group , CITIID-NIHR COVID-19 BioResource Collaboration , Cambridge NIHR Clinical Research Facility

doi : 10.1093/brain/awac321

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A neuron-to-astrocyte Wnt5a signal governs astrogliosis during HIV-associated pain pathogenesis

Xin Liu, Chilman Bae, Benjamin B Gelman, Jin Mo Chung, Shao-Jun Tang

doi : 10.1093/brain/awac015

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Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury

Andrew R Mayer, Josef M Ling, Andrew B Dodd, David D Stephenson, Sharvani Pabbathi Reddy, Cidney R Robertson-Benta, Erik B Erhardt, Robbert L Harms, Timothy B Meier, Andrei A Vakhtin, Richard A Campbell, Robert E Sapien, John P Phillips

doi : 10.1093/brain/awac221

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Finding cures for neurological diseases

Reinhard Hohlfeld

doi : 10.1093/brain/awac282

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Management-induced distress syndrome

Peter J Nestor

doi : 10.1093/brain/awac287

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Is postural tachycardia syndrome a psychogenic disorder?

David S Goldstein

doi : 10.1093/brain/awac345

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Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome

Roald A Lambrechts, Bram Jacobs

doi : 10.1093/brain/awac346

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Patients with POTS fear that data on abnormal haemodynamic physiology have been ignored

Kate M Bourne, Vidya Raj, Robert S Sheldon, Satish R Raj

doi : 10.1093/brain/awac347

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‘Psychogenic’ POTS: the NYU team misinterprets association as causation

David Tuller, Svetlana Blitshteyn, David Davies-Payne, Brendan Delaney, Jonathan Edwards, Mady Hornig, Brian Hughes, David Putrino, John Swartzberg

doi : 10.1093/brain/awac348

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Reply: Is postural tachycardia syndrome a psychogenic disorder?; Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome; Patients with POTS fear that data on abnormal haemodynamic physiology have been ignored; and ‘Psychogenic’ POTS: the NYU team misinterprets association as causation

Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann

doi : 10.1093/brain/awac349

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The spectrum of complement pathway activation is integral to the pathogenesis of severe COVID-19

Cynthia Magro, Gerard Nuovo

doi : 10.1093/brain/awac311

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Reply: The spectrum of complement pathway activation is integral to the pathogenesis of severe COVID-19

Myoung-Hwa Lee, Daniel P Perl, Joseph Steiner, Nicholas Pasternack, Wenxue Li, Dragan Maric, Farinaz Safavi, Iren Horkayne-Szakaly, Robert Jones, Michelle N Stram, Joel T Moncur, Marco Hefti, Rebecca D Folkerth, Avindra Nath

doi : 10.1093/brain/awac353

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