Results 81 to 90 of about 123,890 (260)

Absence Epilepsy with Fast Rhythmic Atypical EEG

Pediatric Neurology Briefs, 2001
The medical files of 31 patients with absence epilepsy (AE) were reviewed at La Timone University Hospital, and Henri Gastaut/Saint Paul Hospital, Marseilles, France.
J Gordon Millichap
doaj   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Macrophage RSAD2 Couples mtDNA Synthesis With a Self‐Amplifying Inflammatory Circuit to Orchestrate Tissue Repair

Advanced Science, EarlyView.
Macrophage RSAD2 dually regulates CMPK2—the rate‐limiting enzyme for mitochondrial DNA synthesis—by suppressing its ubiquitination and promoting its phosphorylation via Csnk2a2 recruitment. This amplifies mtDNA production, which simultaneously activates a cGAS‐STING‐IRF3‐RSAD2 feedforward loop and the NLRP3 inflammasome, driving a self‐sustaining ...
Haomiao Yuan, Shukui Du, Chunfei Li, Xinjie Li, Shuyang Mu, Anran Qu, Hengxu Yan, Chongchong Xu, Jinnong Yang, Jingkai Sun, Yijun Wang, Jiayang Xiao, Fuyuan Zhang, Linlin Wang, Tiegang Li, Rui Zhao, Dawei Guan   +16 more
wiley   +1 more source

Genetics of Absence Epilepsy and Febrile Seizures

Pediatric Neurology Briefs, 2003
In a large family with epilepsy studied at the University of Melbourne, Australia, FS in 18 children were inherited as autosomal dominant with 75% penetrance (GABA receptor subunit mutation on chromosome 5), and absence epilepsy in 8 required the GABA ...
J Gordon Millichap
doaj   +1 more source

MethyAnno: An Interpretable Automated Annotation Method Leveraging Multi‐Scale Information and Metric Learning Framework for scDNAm Data

Advanced Science, EarlyView.
MethyAnno enables robust and interpretable annotation of single‐cell DNA methylation data by integrating multi‐scale epigenetic information, bidirectional cross‐attention, and prototype‐based metric learning. The framework resolves rare and novel cell types across datasets while revealing cell‐type‐specific epigenetic signatures associated with disease
Yuhang Jia, Siyu Li, Songming Tang, Keju Gu, Shengquan Chen   +4 more
wiley   +1 more source

Interhemispheric Functional Connectivity in Childhood Absence Epilepsy

Pediatric Neurology Briefs, 2011
Using a blood oxygen level-dependent resting functional connectivity approach to analyze EEG-fMRI data, the properties of bihemispheric brain networks in 16 patients with childhood absence epilepsy (CAE) were investigated during the interictal period, in
J Gordon Millichap
doaj   +1 more source

Highly‐Time‐Resolved Measurements of Tryptophan's Distribution and Homeostatic Regulation in Live, Intact Animals

Advanced Science, EarlyView.
Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu, Chelsea N. Brown, Zeki Duman, Rose Mery Bakestani, Carl M. Kirkpatrick, Joao Hespanha, Tod Kippin, Kevin W. Plaxco   +7 more
wiley   +1 more source

Single‐Cell Profiling Reveals Clonally Expanded CX3CR1+ T Cells in Anti‐NMDA Receptor Encephalitis

Advanced Science, EarlyView.
CX3CR1+ T cells are associated with peripheral and central immune alterations in anti‐NMDA receptor encephalitis (NMDAR‐E). They show potential responsiveness to GluN1 (NR1) peptides, potential interactions with peripheral B cells, clonal expansion, increased CD137/CD154 expression, and inflammatory cytokine production. Their preferential cerebrospinal
Lin Yan, Erdi Zhang, Yuwen Ma, Zirui Meng, Sisi Li, Yimeng Ren, Xiaohe Tian, Yangyi He, Giuseppe Battaglia, Dong Zhou, Yun Liao, Binwu Ying, Jinmei Li, Minjin Wang   +13 more
wiley   +1 more source

Augmentation of Tonic GABAA Inhibition in Absence Epilepsy: Therapeutic Value of Inverse Agonists at Extrasynaptic GABAA Receptors

Advances in Pharmacological Sciences, 2011
It is well established that impaired GABAergic inhibition within neuronal networks can lead to hypersynchronous firing patterns that are the typical cellular hallmark of convulsive epileptic seizures.
Adam C. Errington, David W. Cope, Vincenzo Crunelli   +2 more
doaj   +1 more source

Antigen‐Detected NMR for Minimal Epitope Engineering and Structure‐Guided Selection of a NaV1.7‐Selective Nanobody

Advanced Science, EarlyView.
A minimal extracellular epitope from voltage‐gated sodium channel NaV1.7 was engineered into an isotope‐labelled antigen for antigen‐detected nuclear magnetic resonance (NMR). Together with AlphaFold2 (AF2), this enabled structure‐guided selection of R4C8, a human NaV1.7‐selective nanobody that labels fixed NaV1.7‐expressing cells and produces staining
Junyu Liu, Wanlin Chen, Ben Cristofori‐Armstrong, Theo Crawford, Kai‐En Chen, Peng Xie, Rainbow Wing Bo Chan, Yifei Zhu, Mimi Golder, Anneka Pereira Schmidt, Jennifer D. Naughton, Nicholas D. Condon, Åsa Andersson, Farhad Dehkhoda, Kirsten L. McMahon, Tabea Klasfauseweh, Ashvriya Thapa, Hue Tran, Poanna Tran, Sina Jami, Lotten Ragnarsson, Sebastian G. B. Furness, Jennifer R. Deuis, Brett M. Collins, Wai‐Hong Tham, Indira Prasadam, Irina Vetter, Mehdi Mobli   +27 more
wiley   +1 more source