Results 201 to 210 of about 872,964 (295)

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Timing and Mode of Death Following Treatment of Neonatal Symptomatic Tetralogy of Fallot. [PDF]

J Am Heart Assoc
Trucco SM, Zhang Y, Glatz AC, O'Byrne ML, Petit CJ, Qureshi AM, Zampi JD, Shahanavaz S, Nicholson GT, Ligon A, Romano JC, Maskatia SA, Meadows JJ, Mascio C, Patel J, Stack K, Beshish AG, Law M, Batlivala SP, Wong-Siegel J, Hock K, Speed S, Khan H, Goel D, McCracken C, Goldstein BH.   +25 more
europepmc   +1 more source

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro, Eugenia Roza, Bárbara Oliveiros, Joana Barbosa Melo, Mar Carreño   +4 more
wiley   +1 more source

Obstructive sleep apnea and the risk of sudden cardiac death: a systematic review and meta-analysis. [PDF]

BMC Cardiovasc Disord
Zou X, Zhou X, Yi S.
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

Surgical vs Transcatheter Aortic Valve Replacement for Asymptomatic Severe Aortic Stenosis- an Updated Meta-Analysis of Reconstructed Individual Patient Data. [PDF]

Interdiscip Cardiovasc Thorac Surg
Awad AK, Badran AS, Gonnah AR, Helmy AE, Awad AK, Elbahloul MA, Alassiri AK, Fatimi AS, Talapaneni S, Khandelwal M, Hameed I.   +10 more
europepmc   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

An autopsy-based cardiac lesion evaluation system facilitates quantitative diagnosis of sudden cardiac death: development and multicenter validation of a machine learning model. [PDF]

BMC Med
Li C, Mao D, Tan X, Cao Z, Yue J, Xia B, Li W, Liu D, Ye W, Wang Z, Li Y, Meng Y, Fang Y, Yao H, Zhao S, Zheng D, Mai T, Zhou M, Shen J, Luo B, Tang S, Liu X, Liu S, Quan L, Liu C, Huang E.   +25 more
europepmc   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Sudden death in the emergency department: A comprehensive 8-year study integrating clinical and autopsy data. [PDF]

Turk J Emerg Med
Akdemir T, Az A, Doğan Y, Akdemir E.
europepmc   +1 more source