Results 101 to 110 of about 59,286 (281)

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

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

, 2017
Objective: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).Methods ...
Luo, Yanmin, Zhiming He, He, Zhiming, Zhiyong Zou, Yi Zhang, Zhang, Yi, Shaobin Lin, Linhuan Huang, Zhu, Hui, Zou, Zhiyong, Lin, Shaobin, Fang, Qun, Qun Fang, Yanmin Luo, Huang, Linhuan, Hui Zhu   +15 more
core   +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

DNA microarray analysis of chromosomal susceptibility regions to identify candidate genes for allergic disease: a pilot study.

, 2004
OBJECTIVE: To examine whether DNA microarray analysis of chromosomal susceptibility regions for allergy can help to identify candidate genes. MATERIAL AND METHODS: Nasal biopsies were obtained from 23 patients with allergic rhinitis and 12 healthy ...
Svensson, Per-Arne,, Cardell, Lars-Olaf, Rudemo, M, Carlsson, Lena M S, Benson, M, Rudemo, Mats,, Carlsson, Björn,, Adner, Mikael,, Svensson, Per-Arne, Martinsson, Tommy,, Carlsson, Björn, Svensson, PA, Carlsson, Lena M S,, Cardell, Lars Olaf, Martinsson, Tommy, Carén, Helena, Adner, Mikael, Rudemo, Mats, Caren, H, Martinsson, T, Carlsson, B, Carlsson, LMS, Carén, Helena,, Benson, Mikael,, Cardell, Lars Olaf,, Adner, M, Cardell, Lars-Olaf,, Car\ue9n, Helena, Benson, Mikael, Carlsson, Bj\uf6rn   +29 more
core   +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

Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis

Iranian Journal of Public Health
Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications. Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and ...
Li, Huafeng, Li, Yongli, Zhang, Yanli, Zhu, Jinping, Huang, Yuqiang   +4 more
openaire   +2 more sources

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

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Medical Sciences, 2019
We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this ...
Rita Cicatiello, Piero Pignataro, Antonella Izzo, Nunzia Mollo, Lucia Pezone, Giuseppe Maria Maruotti, Laura Sarno, Gabriella Sglavo, Anna Conti, Rita Genesio, Lucio Nitsch   +10 more
doaj   +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

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source