Results 1 to 10 of about 287,112 (303)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

A randomized controlled trial of a multimodality digital health intervention to aid the delivery of the modified ketogenic diet therapy for epilepsy: The Keto eCoach trial protocol

Epilepsia Open, EarlyView.
Abstract Objective Dietary therapy is an effective treatment for drug‐resistant epilepsy; however, low adherence presents a significant barrier to use in the clinical setting. This study aims to evaluate a multimodality digital health intervention to overcome this barrier and improve outcomes in adults undertaking the modified ketogenic diet for ...
Neha Kaul, Lucy Vivash, Susanna Chen, Lillian King, Hannah Johns, Leonid Churilov, Zhibin Chen, John‐Paul Nicolo, Danielle Heaven, Ella Meredith, Ryan Ervine, Lisa Todd, Bernadette Zappa, Zanfina Ademi, Gopisankar Mohanannair Geethadevi, Michael Erlichster, Efstratios Skafidas, Terence J. O'Brien, Patrick Kwan   +18 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Exploring Comorbid Psychopathology as Predictors of Outcome and Drop‐Out From Enhanced Cognitive Behaviour Therapy for Adolescents With Anorexia Nervosa and Atypical Anorexia Nervosa

European Eating Disorders Review, EarlyView.
ABSTRACT Background Enhanced Cognitive Behaviour Therapy (CBT‐E) has demonstrated effectiveness in adolescents with anorexia nervosa (AN) and atypical anorexia nervosa (AAN); however, there is limited knowledge about factors that influence treatment outcome.
Daniel Wilson, Hilary Grimmer, Renata A. Mendes, Natalie J. Loxton, Renee Calligeros, James Scott, Courtney Tyson, Melanie Dalton, Rachel Reavley, Kyle Cumner, Riccardo Dalle Grave   +10 more
wiley   +1 more source

Effect of exercise‐related nasopharyngeal disorders on upper airway function in racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise‐related upper respiratory tract (URT) disorders are frequently diagnosed in racehorses. Treatment recommendations are routinely based on subjective assessment of clinical evaluation and exercising endoscopy findings. Objectives To objectively investigate how palatal instability (PI), intermittent dorsal displacement of the ...
Hanna Vermedal, Ingunn Risnes Hellings, Zoe L. Fretheim‐Kelly, Constanze Fintl, Eric Strand   +4 more
wiley   +1 more source

Oscillometric assessment of bronchodilator response in horses with severe asthma during remission

Equine Veterinary Journal, EarlyView.
Abstract Background During clinical remission of severe equine asthma (SEA), affected animals can be challenging to distinguish from healthy horses. In humans, the degree of bronchodilation achieved with a β2‐adrenergic bronchodilator is helpful in differentiating asthmatics from healthy subjects.
Séléna de Wasseige, Sophie Mainguy‐Seers, Jean‐Pierre Lavoie   +2 more
wiley   +1 more source

Single‐stage orthognathic correction of campylorrhinus lateralis in foals using transection and fixation: Surgical description and outcome of four horses

Equine Veterinary Journal, EarlyView.
Abstract Background Campylorrhinus lateralis (‘wry nose’) is a rare congenital maxillofacial deformity of foals resulting in compromise of the airway and severe class 4 malocclusion. Various surgical techniques to correct the deformity have been described, but contemporary data on single‐stage transection and fixation, including use of a rib graft, and
Helio Vasco, Jim Schumacher, Jack Easley
wiley   +1 more source

Duct‐level evaluation of mammary gland health, somatic cell count and bacterial flora in lactating jennies

Equine Veterinary Journal, EarlyView.
Abstract Background Assessing mammary gland health in donkeys is challenging due to the lack of species‐specific diagnostic criteria for subclinical mastitis. Although somatic cell count (SCC) is widely used in dairy ruminants, its diagnostic value in jennies remains unclear.
Anna Rita Attili, Elisa Tsaheylu Gallina, Chiara Storoni, Fulvio Laus, Francesca Romana Massacci, Marilena Bazzano, Anna Duranti, Yubao Li, Vincenzo Cuteri   +8 more
wiley   +1 more source