Results 91 to 100 of about 276,627 (258)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome

International Journal of Genomics
Conclusion: Both children with MEDNIK syndrome exhibited heterogeneous clinical phenotypes. Sparse teeth may be a previously unnoticed feature of MEDNIK syndrome. The pathogenic c.430-1G>A homozygous variant enriches the mutation spectrum of AP1S1.
Lifen Duan, Ru Shen, Guoyan Yin, Ruixi Tao, Yi Zhang, Wei Yu, Lishimeng Bao, Weitao Ye, Runxiu Yin, Xin Tian   +9 more
doaj   +1 more source

Hypersensitivity reaction risk when restarting cenobamate after discontinuation: Insights from a prolonged hospitalized cohort

Epilepsia Open
Objective To evaluate the risk of hypersensitivity reactions, including dermatological rashes, when cenobamate (CNB) is restarted at maintenance doses after temporary discontinuation.
Marina Feldman, Andreas Alexopoulos, Juan Bulacio, Dileep Nair, Vineet Punia   +4 more
doaj   +1 more source

EPILEPSY [PDF]

The Journal of Nervous and Mental Disease, 1900
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openaire   +2 more sources

Development of Multifunctional Hierarchically Restructured Antibacterial Neural Interfacing Electrodes via Plasma‐Enhanced Atomic Layer Deposition of Zinc Oxide Thin Films

Advanced Functional Materials, EarlyView.
ABSTRACT Next‐generation implantable neural‐interfacing devices are increasingly constrained by the coupled demands of electrode miniaturization, electrochemical performance, and implantation infection risk. Femtosecond laser–based hierarchical surface restructuring (HSR) technology has emerged as a scalable, manufacturing‐compatible platform for ...
Henna Khosla, Wesley Seche, Kriti Panchal, Steven J. May, Ekaterina Pomerantseva, Jacob Elmer, Tyler Cooper, Matthew J. Urban, Hailey Y. Maurer, Gregory A. Caputo, Jeffrey Hettinger, Shahram Amini, Gang Feng   +12 more
wiley   +1 more source

GPR124 Alleviates Blood–Brain Barrier Disruption by Enhancing Microvascular Endothelial Function after Traumatic Brain Injury

Advanced Science, EarlyView.
Our study reveals the protective role of GPR124 in maintaining BBB integrity and promoting neurological recovery following TBI. It makes a significant contribution by uncovering a novel molecular interaction between GPR124 and FGFBP1 and linking this to activation of the Wnt/β‐catenin signaling pathway in vascular repair mechanisms.
Chen Wang, Lin Cai, Qiuyuan Gong, Yang Yang, Yuqing Liang, Xinyu Niu, Lai Wei, Ze Liu, Shengju Wu, Yinghui Men, Yaohui Tang, Jun Ding, Hengli Tian, Hao Chen   +13 more
wiley   +1 more source

FGF13 Deficiency Ameliorates Paclitaxel‐Induced Neuropathic Pain by Inhibiting VASH1‐Mediated Microtubule Detyrosination to Promote Mitophagy

Advanced Science, EarlyView.
FGF13 is upregulated in DRG neurons of PIPNP model mice. DRG neuron‐specific knockout of FGF13 ameliorates PIPNP symptoms. Mechanistically, FGF13 potentiates microtubule detyrosination by promoting VASH1 binding to microtubules. FGF13 knockout suppresses VASH1‐mediated microtubule detyrosination and promotes α‐tubulin tyrosination.
Yiming Dong, Yidan Wang, Simeng Lv, Zishan Dong, Kaixi Zhi, Xiuhua Guo, Xuyan Li, Ruoxi Yu, Yiyi Zhang, Siyuan Cheng, Chuan Wang   +10 more
wiley   +1 more source

Impairment of unconscious emotional processing after unilateral medial temporal structure resection

Scientific Reports
The role of the amygdala in unconscious emotional processing remains a topic of debate. Past lesion studies have indicated that amygdala damage leads to impaired electrodermal activity in response to subliminally presented emotional stimuli.
Wataru Sato, Naotaka Usui, Akihiko Kondo, Yasutaka Kubota, Motomi Toichi, Yushi Inoue   +5 more
doaj   +1 more source

Astrocytic Phenotypic Switching in Posterior Piriform Cortex Orchestrates Bone Cancer Pain–Depression Comorbidity via Purinergic–Noradrenergic Signaling

Advanced Science, EarlyView.
Bone cancer pain and depression share a common origin: astrocytic A2‐to‐A1 transition in the posterior piriform cortex. This phenotypic shift disrupts the ATP–adenosine–A2AR–norepinephrine axis, simultaneously driving nociceptive and affective dysfunction.
Jiang‐Ping Liu, Jun‐Han Zhang, Zhi‐Xuan Tan, Wei‐Bing Yan, Ya‐Ru Yuan, Yao Liu, Bing‐Di Wei, Meng‐Qi Ding, Zhuo‐Min Fu, Ying Liu, An‐Qi Wang, Lin Ma, Yong‐Hong Li, Er‐Qing Chai, Chao‐Jun Wei   +14 more
wiley   +1 more source

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source