Results 171 to 180 of about 219,037 (244)

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies. [PDF]

Int J Mol Sci
Di Peppo M, Biancofiore G, Crudo AF, Gulino G, Costabile E, Margaglione A, D'Ambrosio MF, Correale M, Brunetti ND, Santacroce R, Margaglione M, Iacoviello M.   +11 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

TTN mutation-positive hypertrophic cardiomyopathy in congenitally corrected transposition of the great arteries: A rare coexistence. [PDF]

Ann Pediatr Cardiol
Chakraborty S, Dhulipudi B, Bhakru S, Koneti NR.   +3 more
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Left Ventricular Hypertrophy With Pre-Excitation: Thinking Beyond the Usual Hypertrophic Cardiomyopathy Diagnosis. [PDF]

JACC Case Rep
Bukhari S, Barth AS, Rivers B, Madrazo J, Carrick RT.   +4 more
europepmc   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Genetic Testing After Heart Transplantation Uncovers Heritable Disease and Drives Family Screening. [PDF]

JACC Adv
Moliner-Abós C, Cabrera Argaña D, Belmar Cliville D, Rivas S, Crespo-Leiro MG, Peña Hidalgo A, Garrido Gonzalez R, Martín Marín P, Gómez Molina M, Lorca R, Cárdenes León A, González Vilchez F, Rodriguez Arias JJ, Basurte Elorz M, Valverde M, Larrañaga-Moreira JM, Antunez-Ballesteros M, de Frutos F, Rivas-Lasarte M, Manuel Sobrino Márquez J, Garrido Bravo IP, Diaz Molina B, Acosta Calero C, Goena-Vives C, García-Álvarez A, Vilches S, Garcia Romero E, Gomez Bueno M, Garcia Pinilla JM, Alonso Fernandez V, Ochoa JP, de Antonio-Ferrer M, Rodriguez-Santiago B, Mirabet-Pérez S.   +33 more
europepmc   +1 more source

Exercising electrocardiograms from Thoroughbred racehorses with exercise associated sudden death

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise associated sudden death (EASD), defined as a fatal collapse in a closely monitored and previously presumed clinically healthy horse that occurs during exercise or within approximately 1 h after exercise, is disproportionately more common in equine than in human athletes.
Cristobal Navas de Solis, M. Durando, L. Nath, S. Durward‐Akhurst   +3 more
wiley   +1 more source

Chagas in Children Unmasked With Multimodality Imaging. [PDF]

JACC Case Rep
Hede SV, Prasad D.
europepmc   +1 more source