Results 151 to 160 of about 28,537 (282)

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics & Genomic Medicine
Background Pathogenic variants in SCN1B, the gene encoding the sodium channel β1 subunit, are associated with generalized epilepsy with febrile seizures plus (GEFS+) and related epilepsy disorders.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
doaj   +1 more source

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings. [PDF]

Neurology, 2021
Stier C, Elshahabi A, Li Hegner Y, Kotikalapudi R, Marquetand J, Braun C, Lerche H, Focke NK.   +7 more
europepmc   +1 more source

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages

Annals of Neurology, EarlyView.
Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti, Valentina D'Onofrio, Luca Lorenzon, Laura Ludovica Grassi, Davide Mascioli, Valerio Ferrari, Clara Simonetta, Sofia Pavan, Francesca Di Giuliano, Mariangela Pierantozzi, Tommaso Schirinzi, Diego Centonze, Maurizio Corbetta, Angelo Antonini, Alessandro Stefani, Andrea Guerra   +15 more
wiley   +1 more source

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. [PDF]

Epilepsia, 2022
Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P, Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium.   +10 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Resilience of adolescents and teenagers with self-limited and genetic-generalized epilepsy during the COVID-19 pandemic. [PDF]

Epilepsy Behav Rep, 2022
Kwok S, Engle J, Datta AN.
europepmc   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy. [PDF]

Epilepsia Open, 2022
Komatsubara T, Kobayashi Y, Hiraiwa A, Magara S, Hojo M, Ono T, Okazaki K, Fukuda M, Tohyama J.   +8 more
europepmc   +1 more source

Hyperacute Interleukin‐1β Production and Neutrophil Extracellular Trap Formation in the Cerebral Circulation of Stroke Patients with Large Vessel Occlusion

Annals of Neurology, EarlyView.
Acute ischemic stroke due to large vessel occlusion is associated with rapid intravascular immune activation. Analysis of arterial blood sampled distal to the thrombus during mechanical thrombectomy revealed increased extracellular adenosine triphosphate (ATP) and interleukin‐1β (IL‐1β) levels, evidence of inflammasome priming in monocytes, and ...
Justine Münsterberg, Caspar Brekenfeld, Hanna Englert, Marius Piepke, Regine J. Dress, Martin Oertel, Tina Fischer, Romy Hackbusch, Mingming Zha, Haodi Cai, Christian Casar, Ines S. Schädlich, Leo Winter, Alina Jander, Karoline Degenhardt, Maxim Bester, Fabian Flottmann, Uta Hanning, Brigitte Holst, Anna Worthman, Johanna Hiefner, Berenike Rutz, Eckhard Schlemm, Götz Thomalla, Bettina H. Clausen, Ann M. Stowe, Immo Prinz, Thiruma V. Arumugam, Markus Glatzel, Thomas Renné, Jens Fiehler, Eva Tolosa, Tim Magnus, Mathias Gelderblom   +33 more
wiley   +1 more source

Arthroscopic Allogeneic Bone Strip Grafting for Recurrent Shoulder Dislocation With Critical Glenoid Bone Loss: A Free Graft Suspension Fixation Technique

Arthroscopy Techniques, EarlyView.
Abstract In patients with recurrent anterior shoulder dislocation and glenoid bone loss between 10% and 20%, isolated Bankart repair remains associated with a certain rate of postoperative redislocation. The optimal management for this patient subset is controversial. We describe an all‐arthroscopic technique using allogeneic bone strips for free graft
Yingbin Wu, Jiang Guo, Weitong Liu, Changbing Wang, Chuying Fu, Lilian Zhao   +5 more
wiley   +1 more source