Results 121 to 130 of about 79,932 (302)

Course of pregnancy and 10-year observation of twins diagnosed with GCK-MODY in the neonatal period: a case report

Frontiers in Endocrinology
Monogenic diabetes accounts for 5% of all incidence of hyperglycemia and Maturity Onset Diabetes of the Young (MODY) is the most common form. In GCK-MODY, one of the most common forms of MODY, hyperglycemia is caused by a mutation of a gene responsible ...
Barbara Katra, Barbara Katra, Magdalena Szopa, Magdalena Szopa   +3 more
doaj   +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal   +17 more
wiley   +1 more source

A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility

Frontiers in Endocrinology
BackgroundGenetic factors play a significant role in human male infertility, with about 4% of infertile men currently identified with genetic reasons, yet most (60–70%) still lack a definitive diagnosis and remain unexplained.
Qian Zhao, Huifang Peng, Jiali Chen, Hui Zhang, Yujin Ma, Hongwei Jiang   +5 more
doaj   +1 more source

Longitudinal serum and CSF cytokine dynamics in NORSE: Associations with immunotherapy exposure

Epilepsia, EarlyView.
Abstract Objective To characterize serum and cerebrospinal fluid (CSF) cytokine dynamics according to immunotherapy exposure in cryptogenic new‐onset refractory status epilepticus (cNORSE). Methods We analyzed cytokine profiles in 94 serum and 42 CSF samples from 29 and 14 patients, respectively, with cNORSE.
Aurélie Hanin, Clémence Marois, Léa Cosme, Quentin Calonge, Zineb Hayatou, Sarah Baer, Anna‐Lena Behr, Simone Beretta, Francesca Bisulli, Serena Broggi, Michael Cardinale, Carlos Castillo‐Pinto, Adam Celier, Thomas Coppens, Anne De Saint Martin, Krista Eschbach, Susana Ferrao Santos, Elizabeth E. Gerard, Teneille Gofton, Margaret T. Gopaul, Karnig Kazazian, Jeroen Kerstens, Humberto L. Moser Filho, Lorenzo Muccioli, Roberto Santalucia, Hannah Stamberger, Eyal Muscal, Lawrence J. Hirsch, Sophie Demeret, Vincent Navarro   +29 more
wiley   +1 more source

Familial Hypercholesterolemia Monogenic Polygenic or Both

, 2021
The present work aims to determine the genetic cause (monogenic or polygenic) of hypercholesterolemia in clinical FH patients.N/
Chora, J.R., Bourbon, M., Alves, A.C., Medeiros, A.M.   +3 more
core  

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 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

Characterization of Monogenic Kidney Disease in Older Patients With CKD

Kidney International Reports
Introduction: Although 10% of adults with chronic kidney disease (CKD) have a monogenic cause, the characteristics of monogenic CKD in older adults (aged ≥ 60 years) are less characterized.
Elhussein A.E. Elhassan, Sarah Cormican, Shohdan M. Osman, Sahin Sarihan, Omri Teltsh, Fergus E. Poynton, Matthew D. Griffin, Liam Casserly, Emma McCann, Anthony J. Bleyer, Sr., Stanislav Kmoch, Martina Živná, Katherine A. Benson, Gianpiero L. Cavalleri, Peter J. Conlon   +14 more
doaj   +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

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source