Results 41 to 50 of about 369,799 (284)

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation

Frontiers in Neuroscience, 2022
BackgroundMutations in the STAMBP gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation.
Meixin Hu, Huiping Li, Zhuxi Huang, Zhuxi Huang, Dongyun Li, Ying Xu, Ying Xu, Qiong Xu, Bo Chen, Bo Chen, Yi Wang, Jingxin Deng, Ming Zhu, Ming Zhu, Weijun Feng, Weijun Feng, Xiu Xu   +16 more
doaj   +1 more source

Cowden Syndrome with Cortical Malformation and Epilepsy

Pediatric Neurology Briefs, 2013
Investigators at the Institute for Research on Mental Retardation and Brain Aging, Troina, and University of Naples, Italy report a case of Cowden syndrome presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures.
J Gordon Millichap
doaj   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Long‐Term Neurologic Exam Findings in People Diagnosed and Treated During Acute HIV Infection

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Evaluate clinical and laboratory correlates of abnormal neurologic exam findings after acute HIV infection (AHI). Methods Participants from the RV254/SEARCH 010 cohort in Bangkok underwent standardized neurologic examinations at Weeks 0 (AHI), 12, 96, and 288 following antiretroviral therapy (ART).
Kathryn B. Holroyd, Tyler Hamby, Carlo Sacdalan, Somchai Sriplienchan, Pathariya Promensa, Luxenaree Poonpitak, Netsiri Dumrongpisutikul, Eugène Kroon, Sandhya Vasan, Robert Paul, Ferron O'Campo, Lydie Trautmann, Phillip Chan, Serena Spudich, on behalf of the RV254/SEARCH 010 Study Team, Julie Ake, Sandhya Vasan, Lydie Trautmann, Merlin Robb, Trevor Crowell, Donn Colby, Diane Bolton, Shelly Krebs, Leigh Ann Eller, Morgane Rolland, Rasmi Thomas, Dominic Paquin Proulx, Suteeraporn Pinyakorn, Tyler Hamby, Mark de Souza, Ellen Turk, Amber Moodley, Gerald Quarles, Jintanat Ananworanich, Denise Hsu, Victoria Polonis, Nelson Michael, Sheila Peel, COL Eric Garges, Alexandra Schuetz, Siriwat Akapirat, Bessara Nantapinit, Pornsuk Visudhiphan, Saowanit Getchalarat, Nampueng Churikanont, Sangsulee Thamakaison, Somchai Sriplienchan, Carlo Sacdalan, Pathariya Promsena, Luxe‐naree Poonpitak, Eugene Kroon, Nitiya Chomchey, Jintana Intasan, Varaporn Pothipala, Ferron Ocampo, Nittaya Phanuphak, Nipat Teeratakulpisan, Yuwaree Pichitchok, Anchalee Avihingsanon, Opass Putcharoen, Kiat Ruxrungtham, Thanyawee Puthanakit, Sopark Manasnayakorn, Phandee Watanaboonyongcharoen, Rungsun Rerknimitr, Irini Sereti, Daniel Douek, Eli Bortiz, Frank Maldarelli, Mary Kearney, Serena Spudich, Phillip Chan, Lishomwa Ndhlovu, Guinevere Li, Michael Corley, Victor Valcour, Peter Hunt, Jacob Estes, Afam Okoye, Jeff Lifson, Claire Deleage, Nicolas Chomont, Andres Finzi, Lyle McKinnon, Henrik Zetterberg, Robert Siliciano, Robert Paul, Julie Mannarino, Jonathan Li, John Mellors, Josh Cytkor, Dan Barouch, Michael Seaman, Boris Juelg, Alex Shalek, Timothy Schacker, Ashley Haase, Mario Stevenson, Wenjun Li, Arthur Kim, Sharon Lewin, Adam Carrico, Susana Valente, Fred Hutchinson, Josh Schiffer, Guido Ferrari, Beau Ances, Alberto Bosque, Katharine Bar, Killian Pohl, David Ho, Yaoxing Huang, Michael Busch, Mohamed Abdel‐Mohsen, Johanna Gostner, Brian Agan, Fatah Kashanchi, Greg Laird, Kathryn Holroyd   +118 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

A Classification Scheme for Malformations of Cortical Development

Neuropediatrics, 1996
Malformations of the cerebral cortex are being recognized more frequently as a cause of epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a standard nomenclature and classification system of these malformations, based upon state-of-the art knowledge derived from genetics, embryology, imaging, and pathology, has ...
Barkovich, AJ., Kuzniecky, RI, Dobyns, WB, Jackson, GD, Becker, LE, Evrard, Philippe   +5 more
openaire   +2 more sources

Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch, Hannah Schwartz, Kimberly H. Markowitz, Abhishek Jaywant, Christopher D. Hildenbrand, Jai Perumal, Ulrike W. Kaunzner, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source