Results 91 to 100 of about 5,273 (196)

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]

, 2014
IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Bodemer, Christine, Bole-Feysot, Christine, de Veer, Simon, Duchatelet, Sabine, Fraitag, Sylvie, Hovnanian, Alain, Nitschké, Patrick, Pruvost, Solenn   +7 more
core   +1 more source

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

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery

PAIN Reports, 2020
. Background:. Refractive surgery, specifically laser-assisted in situ keratomileusis and photorefractive keratectomy, are widely applied procedures to treat myopia, hyperopia, and astigmatism.
Jun-Hui Yuan, Betsy R. Schulman, Philip R. Effraim, Dib-Hajj Sulayman, Deborah S. Jacobs, Stephen G. Waxman   +5 more
doaj   +1 more source

Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial [PDF]

, 2016
Carboplatin/taxane combination is first-line therapy for ovarian cancer. However, patients can encounter treatment delays, impaired quality of life, even death because of chemotherapy-induced gastrointestinal (GI) toxicity.
Brown, R., Glass, S., He, Y.J., Hoskins, J.M., McLeod, H.L., Motsinger-Reif, A., Paul, J., Winham, S.J.   +7 more
core   +1 more source

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

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

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

BMC Medical Genetics, 2019
Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG ...
Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi   +16 more
doaj   +1 more source

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation [PDF]

, 2014
Genetic variation in SLC12A5 which encodes KCC2, the neuron‐specific cation‐chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease.
Ahmad, Faraz, Berkovic, Samuel F, Blaesse, Peter, Dibbens, Leanne M, Grinton, Bronwyn E, Heron, Sarah E, Iona, Xenia, Kaila, Kai, Oliver, Karen L, Petrou, Steven, Puskarjov, Martin, Scheffer, Ingrid E, Seja, Patricia, Vutskits, Laszlo, Williams, Tristiana C   +14 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

An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels [PDF]

, 2015
Voltage-gated sodium channels are essential proteins in brain physiology, as they generate the sodium currents that initiate neuronal action potentials.
Beltran-Alvarez, Pedro, Onwuli, Donatus O.   +1 more
core   +1 more source