Results 191 to 200 of about 40,214 (287)

PGSFusion streamlines polygenic score construction and epidemiological applications in biobank-scale cohorts. [PDF]

Genome Med
Yang S, Ye X, Ji X, Li Z, Tian M, Huang P, Cao C.   +6 more
europepmc   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan, M. Scott Perry, Ingrid E. Scheffer, James Wheless, Susana Boronat, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Gerard Gioia, Rebecca Shaffer, Madison M. Berl, Mary Wojnaroski, Sarah Christensen, Alexander King, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +28 more
wiley   +1 more source

Rare-Variant Genome-Wide Association and Polygenic Score Assessment of Vitamin D Status in a Middle Eastern Population. [PDF]

Int J Mol Sci
Hendi NN, Umlai UK, Albagha O, Nemer G.
europepmc   +1 more source

Enhancing Suicide Risk Prediction With Polygenic Scores in Psychiatric Emergency Settings: Prospective Study

Young A Lee, Yingzhe Zhang, Chris J. Kennedy, Travis T. Mallard, Zhaowen Liu, Phuong Linh Vu, Yen‐Chen Anne Feng, Tian Ge, Maria Petukhova, Ronald C. Kessler, Matthew K. Nock, Jordan W. Smoller   +11 more
openalex   +1 more source

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background

Epilepsia, EarlyView.
Abstract Objective The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counseling and individualized treatment. Penetrance is usually considered to be high or full, although this has never been studied in population cohorts.
Remi Stevelink, M. Martijn Piet, Yorgos Bos, Ruben van ’t Slot, Kees P. J. Braun, Bobby P. C. Koeleman   +5 more
wiley   +1 more source

Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score. [PDF]

JAACAP Open
de Wit MM, Morgan MJ, Libedinsky I, Austerberry C, Begeer S, Abdellaoui A, Ronald A, Polderman TJC.   +7 more
europepmc   +1 more source

Polygenic risk score: the potential role in the management of systemic lupus erythematosus [PDF]

Chi Chiu Mok
openalex   +1 more source

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

Epilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz   +9 more
wiley   +1 more source

Polygenic Risk Scores in Familial Hypercholesterolemia

Journal of the American College of Cardiology, 2019
Daniel J, Rader, Samip, Sheth
openaire   +2 more sources