Results 141 to 150 of about 1,225,648 (255)

Genetics of Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2019
-
Kıvanç ÇEFLE
doaj  

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

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

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Clinical Ophthalmology, 2012
Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The purpose of this ...
Rowell HA, Bassuk AG, Mahajan VB
doaj  

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Persistence of electroclinical findings in an adult patient with SETD1B‐related epilepsy

Epileptic Disorders, EarlyView.
Rohan Shankar, Abdulrahman Bukhari, Irfan S. Sheikh   +2 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source