Results 151 to 160 of about 191,471 (305)

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Promise and Peril of a Genotype‐First Approach to Mendelian Cardiovascular Disease

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD).
Babken Asatryan, Brittney Murray, Rafik Tadros, Marina Rieder, Ravi A. Shah, Ghaith Sharaf Dabbagh, Andrew P. Landstrom, Stephan Dobner, Patricia B. Munroe, Christopher M. Haggerty, Argelia Medeiros‐Domingo, Anjali T. Owens, Iftikhar J. Kullo, Christopher Semsarian, Tobias Reichlin, Andreas S. Barth, Dan M. Roden, Cynthia A. James, James S. Ware, C. Anwar A. Chahal   +19 more
doaj   +1 more source

A very Mendelian year [PDF]

Nature Genetics, 2022
openaire   +2 more sources

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

Causal association of plasminogen activators and their inhibitors with Alzheimer’s disease: a Mendelian randomization study

Archives of Medical Science
Introduction Alzheimer’s disease (AD) is the most common cause of dementia and contributes to a huge burden of disease worldwide. Observational studies have found that tissue plasminogen activator (t-PA) inhibits the development of AD, but little is ...
Xin Guo, Fangyu Gao, Baolong Pan, Feng Gao, Jingsi Zhang, Shanshan Wang, Qiao Niu   +6 more
doaj   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

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

Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions

Global Heart
Mendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes.
Sophie C. de Ruiter, Lena Tschiderer, Diederick E. Grobbee, Peter Willeit, Hester M. den Ruijter, A. Floriaan Schmidt, Sanne A. E. Peters   +6 more
doaj   +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