Results 221 to 230 of about 322,791 (290)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Intracardiac Echocardiography in Structural Heart Interventions: A Comprehensive Overview. [PDF]

J Clin Med
Leuzzi F, Formisano C, Cerrato E, Maione A, Attisano T, Meucci F, Ciccarelli M, Vecchione C, Galasso G, Di Muro FM.   +9 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Photon-counting CT-guided bone biopsy with real-time bone marrow edema mapping. [PDF]

Eur Radiol Exp
Alvarez de Sierra Garcia B, Urtasun-Iriarte C, Nieto P, Alonso Burgos A.   +3 more
europepmc   +1 more source

Conduction Disorders: The Achilles' Heel of TAVR? [PDF]

J Clin Med
Fournier A, Robert P, Macia JC, Berdeu JM, Schmutz L, Steinecker M, Roubille F, Cayla G, Leclercq F.   +8 more
europepmc   +1 more source

Mitigating aerosol contamination: strategies for contamination-free scaling. [PDF]

GMS Hyg Infect Control
Shenoy A, Shenoy N, Subhash CK.
europepmc   +1 more source

Atrial Secondary Mitral Regurgitation Outcomes Following Mitral Transcatheter Edge-to-Edge Repair: Results From the EXPANDed Studies. [PDF]

Circ Cardiovasc Interv
Ricciardi MJ, Singh G, Rogers JH, Ruf T, Rottbauer W, Horn P, Mahoney P, Chehab B, Asch FM, Zamorano J, Price MJ, Morse MAM, Rinaldi MJ, Denti P, Dong M, Huang R, Maisano F, von Bardeleben RS, Rodriguez E, Kar S.   +19 more
europepmc   +1 more source