Results 161 to 170 of about 22,409 (239)

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]

Medicine (Baltimore)
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc   +1 more source

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features. [PDF]

J Clin Med
Yalçın G, Yıldırım R, Unal E, Cebeci D, Ersen A, Özyılmaz B, Tekeş S, Anıl M, Gürbay A.   +8 more
europepmc   +1 more source

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

Epilepsia, Volume 67, Issue 3, Page 1406-1420, March 2026.
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

Lidocaine as a potential anti-seizure therapy for pediatric FIRES: a promising therapeutic approach. [PDF]

Front Pediatr
Yang Y, Wei N, Guan Q, Xie H, Huang X, Ru X, Wu Y, Wang Y, Sang T.   +8 more
europepmc   +1 more source

Proposed criteria of levels of evidence for co‐occurring epilepsy in people with functional/dissociative seizures

Epilepsia, Volume 67, Issue 3, Page 1345-1357, March 2026.
Abstract Objective This work was undertaken to describe the level of evidence for co‐occurring epileptic seizures in patients with known functional/dissociative seizures (FDS) using stratification criteria analogous to the International League Against Epilepsy criteria for functional seizures.
Shruti N. Iyer, Zachary Duarte, Gabriela Figueiredo Pucci, Tara Pirnia, Katherine N. McFarlane, Danielle R. Carns, Alex Israel, Kyr Goyette, Brittany Concilus, Nicholas J. Beimer, Page B. Pennell, M. Angela O'Neal, Laura A. Strom, Laura A. Kirkpatrick, Joseph Ta, Carolina Cuello‐Oderiz, Wesley T. Kerr   +16 more
wiley   +1 more source

A Rare NPHS2 Mutation (E130K) in Hereditary Steroid-Resistant Nephrotic Syndrome: A Case Report. [PDF]

Case Rep Nephrol
Mujahed RH, Salloum OH, Ishreiteh NF, Hosheyh HM, Hashem ADA, Shamestti YF, Hroub MR.   +6 more
europepmc   +1 more source

Molecular detection of pathogens in an equine fever diagnostic panel: 2019–2023

Equine Veterinary Journal, Volume 58, Issue 2, Page 486-496, March 2026.
Abstract Background A common diagnostic approach for febrile horses is to test for a panel of potential pathogens. Panels are curated by expert opinion and vary between diagnostic laboratories. Objectives To report the results of a newly developed equine fever diagnostic panel (EFDP) between 2019 and 2023 and evaluate the frequency of positive results.
Toby L. Pinn‐Woodcock, Melissa S. Aprea, Manigandan Lejeune, Joy E. Tomlinson   +3 more
wiley   +1 more source

Carbogen Inhalation Therapy for Epileptic Seizures: Mechanisms, Evidence, and Future Directions. [PDF]

CNS Neurosci Ther
Wang L, Liu Y, Ding W, Yang M, Liu Q, Xu F.   +5 more
europepmc   +1 more source

Equine trypanosomiasis, a systematic review and meta‐analyses: Prevalence, morbidity and mortality

Equine Veterinary Journal, Volume 58, Issue 2, Page 291-319, March 2026.
Abstract Background Equine trypanosomiasis is a neglected protozoal disease. Objectives To perform a systematic search of literature to explore: (1) In equines what is the global geographical distribution and prevalence of trypanosomiasis? In low and middle‐income countries (LMICs) is trypanosomiasis more prevalent than in higher‐income countries (HICs)
Alexandra G. Raftery, Lauren Gummery, Karelhia Garcia, Dinesh Mohite, Paul Capewell, David G. M. Sutton   +5 more
wiley   +1 more source