Results 171 to 180 of about 9,370,992 (242)

Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition

Epilepsia, EarlyView.
Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga, Mercedes Pérez‐Fernández, Yuniesky Andrade‐Talavera, Benito Domínguez‐Velasco, Antonio Rodríguez‐Moreno, Manuel Álvarez‐Dolado   +5 more
wiley   +1 more source

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi, Simone Brusco, Serena Gea Giannelli, Vania Broccoli, Gaia Colasante   +4 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Single‐Cell RNA Sequencing and Spatial Multiomics Unveil Microglia–Mural Interactions Underlying Notoginsenoside R1 Against Ischemic Stroke

iMetaMed, EarlyView.
Integrated scRNA‐seq and spatial multiomics provide single‐cell and spatial insights into the neuroprotective effects of NGR1, a clinically validated bioactive compound from Panax notoginseng. NGR1 was associated with a shift in microglial transcriptional states away from ischemia‐associated pro‐inflammatory Adam8hi microglia and toward the protective ...
Qikun Zhao, Wenbo Guo, Yanrong Zheng, Guoqian Cui, Bingjie Wan, Shuhui Deng, Hudong Bao, Xiao Tu, Shengshuang Chen, Jie Liao, Xiaohui Fan   +10 more
wiley   +1 more source

S100A9 promotes pulmonary arterial hypertension by regulating mitochondria–endoplasmic reticulum interaction‐mediated inflammatory injury of endothelial cells

Interdisciplinary Medicine, EarlyView.
Macrophage‐derived S100 calcium‐binding protein A9 (S100A9) promotes the pathological progression of pulmonary arterial hypertension (PAH). S100A9 upregulates the interaction between signal‐transducing adaptor protein 2 and leucine‐rich repeat kinase 2, thereby regulating mitochondria–endoplasmic reticulum (ER) contact.
Chen Gong, Long Chen, Yiting Zhao, Xiaohe Wang, Qiang Yuan, Xiaofeng Fang, Liuyi Li, Yinbo Xu, Shumei Jiang, Guangwen Xu, Ke Meng, Delong Wang, Kangli Cao, Jianlong Sheng, Liling Guo, Shichun Shen   +15 more
wiley   +1 more source

Gene therapy using AAV (adeno-associated virus) vectors

Uirusu, 2003
openaire   +3 more sources

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Microbial metabolite indole‐3‐propionic acid preserves astrocytic mitochondrial mitofusin 2 to limit neuroinflammation after traumatic brain injury

Interdisciplinary Medicine, EarlyView.
Following traumatic brain injury, indole‐3‐propionic acid (IPA) directly targets the aryl hydrocarbon receptor on astrocytes in the peri‐lesional cortex; this suppresses interferon regulatory factor 1‐driven transcription of the E3 ubiquitin ligase RFFL (ring finger and FYVE‐like domain containing E3 ubiquitin protein ligase).
Ziwen Zhang, Kai Wang, Liangbo Wang, Wencong Li, Hao Guo, Meng Xu, Tinghao Wang, Jiahui Ren, Ting Zhu, Jiahui Wang, Wenxing Cui, Jinpeng Zhou, Yang Tian, Liying Han, Chengxuan Guo, Shuoyao Ma, Qiang Wang, Zhihong Li, Yaning Cai, Jingyu Dong, Xun Wu, Haixiao Liu, Yan Qu   +22 more
wiley   +1 more source