Results 201 to 210 of about 1,461,446 (283)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Coupling auditory cues and bilateral transauricular vagus nerve stimulation in Parkinson's disease with freezing of gait: an open-label feasibility study. [PDF]

J Rehabil Med
Di Maio A, Meloni M, Song JJ, Di Lazzaro V, Marano M.   +4 more
europepmc   +1 more source

Depressive symptoms as independent correlates of epilepsy‐related cognitive burden

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the relationship between the severity of depression and anxiety symptoms and epilepsy‐related variables and cognitive burden in people with epilepsy (PwE), as assessed using EpiTrack. Methods We prospectively enrolled a cohort of PwE who underwent EpiTrack and evaluation by Generalized Anxiety ...
Biagio Maria Sancetta, Giuli Lippa, Marianna Nesta, Lorenzo Ricci, Simona Paola Carbone, Lorenzo Veronese, Giulia Conti, Marco Sferruzzi, Vincenzo Di Lazzaro, Mario Tombini, Giovanni Assenza   +10 more
wiley   +1 more source

Global Prevalence of Irritable Bowel Syndrome: An Updated Systematic Review and Meta-Analysis. [PDF]

Gastroenterology Res
Ballena-Caicedo J, Valladolid-Sandoval LAM, Zuzunaga-Montoya FE, Vera-Ponce VJ.   +3 more
europepmc   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

The Electrophysiologist's Worst-Case Scenario: Aortic Near-Miss Revealed by Contrast-Enabled Radiofrequency Needle. [PDF]

JACC Case Rep
Costantino J, Campoli M, Romani B, Zuccaro LM, Porcelli D.   +4 more
europepmc   +1 more source

Intracranial electroencephalographic approaches in the intensive care unit: Safety, feasibility, and coverage

Epilepsia, EarlyView.
Abstract Objective Nonconvulsive epileptic activity is common after acute brain injury and contributes to neuronal injury and poor outcomes. Although intracranial electroencephalography (iEEG) improves detection compared with surface EEG (suEEG), it currently relies on focal recordings of epileptic dynamics.
Steven Smeijers, Mariella Segreti, Anaïs Van Hoylandt, Jeroen Gijs, Johannes van Loon, Lauranne Scheldeman, Bart Depreitere, Tom Theys   +7 more
wiley   +1 more source

TTV Load Mirrors Local Immunity and Tracks HPV Positivity in the Anogenital Tract. [PDF]

J Med Virol
Cinti L, Palaia I, Pierangeli A, D'ettorre G, Cavallari EN, Antonelli G, Roberto P.   +6 more
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source