Results 141 to 150 of about 3,197,012 (359)

Development and validation of a deep survival model to predict time to seizure from routine electroencephalography

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to develop and validate a deep survival model (EEGSurvNet) that analyzes routine electroencephalography (EEG) to predict individual seizure risk over time, comparing its performance to traditional clinical predictors such as interictal epileptiform discharges (IEDs).
Émile Lemoine, An Qi Xu, Mezen Jemel, Frédéric Lesage, Dang K. Nguyen, Elie Bou Assi   +5 more
wiley   +1 more source

Tutorial: a guide to performing polygenic risk score analyses

bioRxiv, 2018
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual’s genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study (GWAS) data.
S. Choi, Timothy Shin Heng Mak, P. O’Reilly   +2 more
semanticscholar   +1 more source

Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci [PDF]

, 2022
Jonas Ghouse, Vinicius Tragante, Ayesha Muhammad, Gustav Ahlberg, Morten W. Skov, Dan M. Roden, Ingileif Jónsdóttir, Laura Andreasen, Pia R. Lundegaard, Linea C. Trudsø, Karina Banasik, Søren Brunak, Sisse Rye Ostrowski, Christian Torp‐Pedersen, Ole Birger Pedersen, Erik Sørensen, Lars Køber, Kasper Iversen, Unnur Þorsteinsdóttir, Guðmundur Þorgeirsson, Henrik Ullum, Daníel F. Guðbjartsson, Jonathan D. Mosley, Hilma Hólm, Kāri Stefánsson, Henning Bundgaard, Morten S. Olesen   +26 more
openalex   +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

Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: A case –control study [PDF]

, 2020
Juan Carlos Triviño, A Ceba, E Rubio-Solsona, D. Serra, I Sanchez-Guiu, G Ribas, R Rosa, Mariona Cabo, L Bernad, Guillermo Pita, A Gonzalez-Neira, Garikoitz Legarda, JL Diaz, A García-Vigara, A Martínez-Aspas, M Escrig, B Bermejo, P Eroles, J Ibáñez, D. Salas, Ana Julve, Aitana Cano, A Lluch, Rebeca Miñambres, Javier Benı́tez   +24 more
openalex   +1 more source

Evaluation of the Polygenic Risk Score for Alzheimer’s Disease in Russian Patients with Dementia Using a Low-Density Hydrogel Oligonucleotide Microarray [PDF]

, 2023
A. Yu. Ikonnikova, Аnna Morozova, О. В. Антонова, Alexandra Ochneva, Elena Fedoseeva, Olga Abramova, Marina Emelyanova, М. А. Филиппова, Irina Morozova, Yana Zorkina, Timur Syunyakov, Alisa Andryushchenko, Denis Andreuyk, G. P. Kostyuk, Dmitry Gryadunov   +14 more
openalex   +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

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Childhood trajectories of internalising and externalising problems associated with a polygenic risk score for neuroticism in a UK birth cohort study [PDF]

, 2021
Ilaria Costantini, Hannah Sallis, Kate Tilling, Daniel Major‐Smith, Rebecca M. Pearson, Daphne Kounali   +5 more
openalex   +1 more source

Post‐GWAS Polygenic Risk Score: Utility and Challenges

JBMR Plus, 2020
Over the past decade, through genome‐wide association studies, more than 300 genetic variants have been identified to be associated with either BMD or fracture risk.
Tuan V Nguyen, John A Eisman
doaj   +1 more source