Results 151 to 160 of about 542,780 (295)

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Ambient technology in epilepsy clinical practice

Epilepsia Open, EarlyView.
Abstract The utilization of large language model‐based artificial intelligence (AI) in the field of neurology has gained attention as a viable tool to enhance and assist providers with processes ranging from scheduling patients to providing preliminary interpretations of testing results, pending orders, and documenting encounters. Epileptologists could
Haania Kakwan, Justin F. Rousseau, Lidia M. Moura, Irfan S. Sheikh   +3 more
wiley   +1 more source

スギ花粉アレルゲンCry j 1、Cry j 2の室外および室内の飛散挙動に関する研究

スギ花粉アレルゲンCry j 1、Cry j 2の室外および室内の飛散挙動に関する研究
第1章 序論.....-1-　1.1. はじめに.....-2-　　1.1.1. 花粉症.....-2-　　1.1.2. スギ花粉とスギ花粉アレルゲン.....-3-　　1.1.3. 花粉症発症メカニズム.....-4-　　1.1.4. スギ花粉症の有病率増加の原因.....-6-　　1.1.5. 花粉情報現状.....-7-　1.2. 本研究の目的と意義.....-8-　1.3. 本論文の構成.....-9-　1.4. 本論文の概要.....-10-　第1章の参考文献.....-12-第2章 道路近傍および一般大気中のスギ花粉およびそのアレルゲンCry j 1含有粒子の挙動の比較.....-15-　2.1.
openaire   +1 more source

Photoreceptor control of <i>Platynereis</i> growth and lifespan via evolutionarily conserved molecular pathways. [PDF]

Proc Natl Acad Sci U S A
Andreatta G, Scaramuzza F, Ćorić A, Orel L, Mat AM, Takekata H, Poehn B, Milivojev N, Tessmar-Raible K.   +8 more
europepmc   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Clocks on steroids: how glucocorticoid receptors tell cells the time. [PDF]

J Endocrinol
Edmondson A, Menzies J, Ray DW, O'Neill JS.   +3 more
europepmc   +1 more source

Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis

Epilepsia Open, EarlyView.
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang, Rui Li, Yuzhu Zhang, Yi Hu, Jingjiao Chen, Sijia Tian, Dong Zhou, Xiaosa Chi   +7 more
wiley   +1 more source

Regulatory diversity in Bacillus thuringiensis cry genes reveals flexible evolutionary strategies for in vivo toxin expression. [PDF]

PLoS Pathog
Gómez I, Garcia-Gómez BI, do Nascimento NA, Infante O, Cantón PE, Pacheco S, Peláez-Aguilar AE, Sanchez J, Soberón M, Bravo A.   +9 more
europepmc   +1 more source

All the bedrooms a stage: Reconceptualizing sex as “performance” to sex as “rehearsal”

Feminist Anthropology, EarlyView.
Abstract In the United States, sex is often spoken about in terms of performance, and naturally invokes language of theatricality. Sexual performance has been used as an umbrella term to refer to sexual satisfaction, behavior, embodiment, and also pathology in terms of conditions such as erectile dysfunction.
Taylor Harmon
wiley   +1 more source