Results 111 to 120 of about 228,011 (281)

Oligogenic 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 more
wiley   +1 more source

Epidermoid spinal cord tumour after lumbar puncture

A 5 year old boy developed an implantation dermoid tumour after a lumbar puncture in infancy. A survey of senior paediatricians has shown it to be common practice to use an unstiletted needle for lumbar puncture in small children.
A. W., Craft, Crawford, P. J., Halcrow, S. J.   +5 more
core   +5 more sources

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Evaluation of the Effects of Resting in Appearance of Post Lumbar Puncture Headache

Acta Medica Iranica, 2014
Lumbar puncture (LP) is a procedure for obtaining spinal fluid from spinal meningeal spaces this can be done as a diagnostic or therapeutic procedure which can result in to a typical positional headache named as post lumbar puncture headache .This can ...
Siamak Afshinmajd, Ali Davati, Afshin Ahmadvand, Farhad Modara, Masoud Moghaddamnia, Moslem Jaberian   +5 more
doaj  

Frequency of anti‐neural antibodies and autoimmune epilepsy in focal epilepsy of unknown etiology: An observational study in a Singaporean cohort

Epilepsia Open, EarlyView.
Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park, Jeanne May May Tan, Xuejuan Peng, Patricia Yut Wan Wong, Karine Su Shan Tay, Angelia Swee Hoon Koe, Janis Siew Noi Tye, Josiah Yui Huei Chai, Pei Xuan Koh, Yee Leng Tan, Sheila Srinivasan, Ngai Kun Loh, Nigel Choon Kiat Tan, Kevin Tan, Tianrong Yeo   +14 more
wiley   +1 more source

Eagle's Syndrome Presenting With Peripheral Facial Palsy—A Case Report

Head &Neck, EarlyView.
ABSTRACT Background Eagle's syndrome is a condition caused by an elongated styloid process and is characterized by various symptoms such as cervicofacial pain, foreign body sensation, headache, odynophagia, and otalgia. However, the occurrence of a unilateral peripheral facial palsy as a symptom of Eagle's syndrome has been described only rarely ...
Vincent Holtmann, Roman Ackermann, Klaus Jahn, John‐Martin Hempel   +3 more
wiley   +1 more source

A case report: Diagnosis and treatment of idiopathic hypertrophic pachymeningitis

Ibrain, Volume 11, Issue 1, Page 112-116, Spring 2025.
We reported a case of idiopathic hypertrophic dura meningitis diagnosed in our hospital. The patient repeatedly suffered from headaches, followed by blurred vision in the right eye. During this period, multiple sclerosis was considered for diagnosis, and it improved after hormone treatment.
Zhong Luo, Piao Cao, Jing‐Qing Xu, Rong Yan, Jian Wang, Tao Liang, Ya Chen, Zu‐Cai Xu   +7 more
wiley   +1 more source

A rare case of perineal neuralgia treated with ultrasound‐guided nerve block combined with water separation

Ibrain, Volume 11, Issue 1, Page 106-111, Spring 2025.
A middle‐aged man presented with a right indirect inguinal hernia in November 2020 and underwent laparoscopic high ligation of the right hernial sac. Intermittent acupuncture‐like pain in the skin of the right scrotum and medial thigh occurred 1 month after surgery and lasted for 6 months. Under ultrasound guidance, ilioinguinal nerve and genitofemoral
Yong Wang, Min Wang, Rui Jiang, Zhao‐Qiong Zhu, Guang‐Cai Li   +4 more
wiley   +1 more source

Illustration of atraumatic and cutting lumbar puncture needles.

, 2019
A: Pencil point (atraumatic) lumbar puncture needle. B: Beveled (cutting) lumbar puncture needle. C: Introducer needle to go through the skin and inter-spinous ligament. D: Pencil point (atraumatic) lumbar puncture needle to be inserted in the introducer
Pierre Clavelou (432900), Xavier Moisset (3133011), Alexandre Saturnin (6818048), Bruno Pereira (415597), Carole Jamet (6818045)   +4 more
core   +1 more source

From Disability to Diagnosis: Baseline Findings from the Calgary Functional Movement Disorder Registry

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Functional movement disorder (FMD), a subtype of functional neurological disorder, is a complex neuropsychiatric syndrome characterized by inconsistent and incongruent motor symptoms. Despite its relatively high prevalence, FMD remains associated with delayed diagnosis, significant disability, and limited evidence to guide ...
Andrea Soumbasis, Brian Steele, Megan Howlett, Kate Kain, Davide Martino, Kimberly G. Williams, Gabriela S. Gilmour   +6 more
wiley   +1 more source