Results 181 to 190 of about 374,677 (247)

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene. [PDF]

Cell Genom
Sonehara K, Watanabe R, Matsumura Y, Mitsui Y, Ogawa Y, Odomari K, Sakaue S, Namba S, Komuro M, Edamoto M, Watanabe J, Hirota T, Arase N, Nakamura Y, Nakajima K, Okamoto T, Nishikawa R, Yamamoto K, Suzuki K, Kishikawa T, Edahiro R, Shirai Y, Naito T, Sasa N, Ishitsuka Y, Furuta J, Kunimoto K, Kajihara I, Fukushima S, Miyachi H, Matsue H, Kamata M, Momose M, Miyagawa I, Tanaka H, Ueno M, Bito T, Nagai H, Ikeda T, Horikawa T, Adachi A, Matsubara T, Nishida E, Biobank Japan Project, Matsuda K, Shojima N, Nakagawa I, Asano Y, Sato S, Imafuku S, Tada Y, Nishigori C, Jinnin M, Ihn H, Asahina A, Saeki H, Yamauchi T, Kadowaki T, Kawamura T, Shimada S, Katayama I, Higasa K, Noguchi E, Sano S, Tanaka Y, Matsuda F, Kumanogoh A, Tamari M, Satoh T, Fujimoto M, Morita A, Okada Y.   +71 more
europepmc   +1 more source

Prognostic Implications of Sleep Architecture for Patients Admitted to the Intensive Care Unit With Status Epilepticus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Status epilepticus (SE) is associated with significant mortality. Sleep architecture may reflect normal brain function. Impaired sleep architecture is associated with poorer outcomes in numerous conditions. Here we investigate the association of sleep architecture in continuous EEG (cEEG) with survival in SE.
Ran R. Liu, Marcus C. Ng, Gavin P. Winston, Sabrina Schaly, Garima Shukla, Lysa Boissé Lomax   +5 more
wiley   +1 more source

Putting Structural Variants Into Practice: The Role of Chromosomal Inversions in the Management of Marine Environments. [PDF]

Mol Ecol
Schneller NM, Strugnell JM, Field MA, Johannesson K, Cooke I.   +4 more
europepmc   +1 more source

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source

Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder. [PDF]

Front Mol Neurosci
Garvin MR, Kainer D.
europepmc   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

An optimised computational approach for the identification of somatic structural variants in cancer

Waise S, Mensah N, Lesluyes T, Demeulemeester J, Flanagan A, Pillay N, Van Loo P.   +6 more
europepmc   +1 more source

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models. [PDF]

Front Genet
Ruan J, Song Q, Hu Y, Liu X, Li S, Zhu J, Yang L.   +6 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source