Results 101 to 110 of about 1,650,847 (244)

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

Theory of mind: A cognitive endophenotype of juvenile myoclonic epilepsy?

Epilepsia, EarlyView.
Abstract Objective Juvenile myoclonic epilepsy (JME), the most common idiopathic generalized epilepsy, is associated with neuropsychological and psychiatric comorbidities, including social cognition and theory of mind (ToM) deficits. The interplay between clinical features, social cognition, and their neural and genetic substrates remains poorly ...
Bernardo Crespo‐Pimentel, Lucas J. Rainer, Mario Braun, Martin Kronbichler, Patrick Langthaler, Lisa Kronbichler, Sarah Said‐Yürekli, Laura Zamarian, Hennric Jokeit, Kornelius Winds, Elias Legat, Eugen Trinka, Julia Höfler, Giorgi Kuchukhidze   +13 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

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Genetic and Molecular Basis of Processing Traits and Genetic Improvement Progress in Major Fruit Crops

Future Postharvest and Food, EarlyView.
Processing quality in fruit crops is governed by complex genetic networks controlling texture, sweetness, color, browning, aroma, and nutritional quality. Advances in genomics, genomic selection, and genome editing enable the development of processing‐oriented cultivars with improved industrial performance, reduced postharvest losses, and enhanced ...
M. Ranjani, Kaviya Dharshini U, Shalini Gaur Rudra   +2 more
wiley   +1 more source

Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population

American Heart Journal Plus
Study objective: Polygenic risk scores (PRS) are increasingly recognized for their potential to improve coronary artery disease (CAD) prediction beyond traditional clinical models. This study evaluated the utility of genome-wide association study (GWAS) -
Evija Kanašniece, Elita Ozola, Līvija Bārdiņa, Dmitrijs Rots, Marija Lazovska, Baiba Vilne, Linda Gailīte, Andrejs Ērglis, Kārlis Trušinskis   +8 more
doaj   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Effects of polygenes, parent–child relationship and frustration on junior high school students' aggressive behaviors

PsyCh Journal
The effects of the interaction between polygenes and the parent–child relationship on junior high school students' aggressive behaviors were explored through the frameworks of gene‐endophenotype‐behavior and neurophysiological basis.
Minghao Zhang, Zhenli Jiang, Kedi Zhao, Yaohua Zhang, Min Xu, Xiaohui Xu   +5 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Using polygenic scores in combination with symptom rating scales to identify attention-deficit/hyperactivity disorder

BMC Psychiatry
Background The inclusion of biomarkers could improve diagnostic accuracy of attention-deficit/hyperactivity disorder (ADHD). One potential biomarker is the ADHD polygenic score (PGS), a measure of genetic liability for ADHD.
André Høberg, Berit Skretting Solberg, Tor-Arne Hegvik, Jan Haavik   +3 more
doaj   +1 more source