Results 91 to 100 of about 4,664 (202)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis [PDF]

, 2015
To identify protein-altering variants (PAVs) for glioma, we analysed Illumina HumanExome BeadChip exome-array data on 1882 glioma cases and 8079 controls from three independent European populations.
Delattre, J-Y, Fleming, SJ, Galan, P, Gousias, K, Heilmann, S, Herms, S, Houlston, RS, Kamatani, Y, Kinnersley, B, Labussiere, M, Lathrop, M, Mokhtari, K, Noethen, MM, Sanson, M, Schoemaker, MJ, Schramm, J, Simon, M, Swerdlow, A, Wang, Y   +18 more
core   +2 more sources

Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy

Epilepsia Open, Volume 10, Issue 5, Page 1726-1732, October 2025.
Abstract Genetic testing via multigene panels has become common practice for children with epilepsy. This results in frequent identification of variants of uncertain significance (VUS). Providers must then assess clinical suspicion of the VUS, considering clinical correlation, family variant testing, and laboratory contact for internal case data.
Tatum Vilaboy, Kristen Wong, Martin Tristani‐Firouzi, Amanda G. Sandoval Karamian, Rachel Palmquist   +4 more
wiley   +1 more source

A Novel SCN9A Gene Mutation in a Patient with Carbamazepine-Resistant Paroxysmal Extreme Pain Disorder

Neonatal and Pediatric Medicine, 2017
Paroxysmal extreme pain disorder is an autosomal dominant disorder caused by mutation of the SCN9A gene. In most cases, the pain is relieved by carbamazepine. We report on a novel SCN9A mutation associated with carbamazepine-resistant. The proband was a 7-month-old child who suffered from typical attacks from birth onwards. Sequencing of SCN9A revealed
Sablonniere B, Huin V, Cuvellier J, Genet A, Dhaenens C, Vallee L   +5 more
openaire   +1 more source

Dexmedetomidine Versus Midazolam for Propofol Sparing in Procedural Sedation of Children With Leukemia: A Consecutive Case Series

Acta Anaesthesiologica Scandinavica, Volume 69, Issue 8, September 2025.
ABSTRACT Introduction Propofol is commonly used in procedural sedation in oncology due to its rapid sedative effect and favorable recovery profile. However, several preclinical and clinical studies have demonstrated a dose‐dependent neurotoxic effect of this drug.
Domenica Squillaci, Karen Console, Lara Colussi, Valentina Kiren, Marco Rabusin, Gabriele Stocco, Antonella Longo, Paolo Dalena, Egidio Barbi   +8 more
wiley   +1 more source

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

BMC Medical Genomics, 2023
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect ...
Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah   +7 more
doaj   +1 more source

WONOEP appraisal: New genetic approaches to study epilepsy [PDF]

, 2014
New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic
Albert J. Becker, Elsa Rossignol, Jeffrey A. Loeb, Jonathan Vinet, Katja Kobow, Krista L. Gilby, Shilpa D. Kadam, SIMONATO, Michele, Thierry Grisar   +8 more
core   +2 more sources

Identification of key genes and pathways involved in response to pain in goat and sheep by transcriptome sequencing

Biological Research, 2018
Purpose This aim of this study was to investigate the key genes and pathways involved in the response to pain in goat and sheep by transcriptome sequencing.
Xiuling Deng, Dong Wang, Shenyuan Wang, Haisheng Wang, Huanmin Zhou   +4 more
doaj   +1 more source

Cis‐acting allele specific expression (ASE) differences induced by alcohol and impacted by sex as well as parental genotype of origin [PDF]

, 2018
Background Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low ...
Bell, Richard L., Liang, Tiebing, Lo, Chiao-Ling, Lossie, Amy C., Lumeng, Lawrence, Muir, Williams M., Zhou, Feng C.   +6 more
core   +1 more source

Decoding Pain: Next‐Generation In Vitro Systems for Mechanistic Insights and Drug Discovery

The FASEB Journal, Volume 39, Issue 16, 31 August 2025.
Developing an in vitro pain model that mimics essential features of the in vivo pain circuit requires careful consideration of multiple components and choices. These include selecting the cellular population for the model, choosing from the origin of nociceptors and other cells that are cultured, deciding between 3D or 2D dimensions, designing the ...
Dara Khosrowshahi, Liesbet Lagae, Johanna Bolander   +2 more
wiley   +1 more source