Results 181 to 190 of about 20,695 (239)

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

5C-ID: Increased resolution Chromosome-Conformation-Capture-Carbon-Copy with in situ 3C and double alternating primer design. [PDF]

Methods, 2018
Kim JH, Titus KR, Gong W, Beagan JA, Cao Z, Phillips-Cremins JE.   +5 more
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq). [PDF]

J Vis Exp, 2018
Brettmann EA, Oh IY, de Guzman Strong C.
europepmc   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

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

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Genetic Algorithm‐Driven Analysis of Gravitational Water Vortex Power Plant Runner Performance: A Comparative Study Integrating Experimental and Computational Fluid Dynamics

Energy Science &Engineering, EarlyView.
This study integrates genetic algorithm optimization, CFD simulation, and experimental validation to identify the optimal runner geometry for a gravitational water vortex turbine. The combined approach enhances vortex stability and improves energy conversion efficiency, demonstrating strong agreement between predicted and measured performance ...
Zakaria. A. Mwakitwange, Adam Faraji
wiley   +1 more source