Results 121 to 130 of about 33,305 (301)

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

Advanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng, Yanlin Guo, Liumi Jiang, Jing Luo, Yan Liu, Ziwei Yuan, Pingyang Ke, Ran Duan, Fei Xiao   +8 more
wiley   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

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

Defective interhemispheric inhibition in drug-treated focal epilepsies

, 2017
Focal epilepsies (FEs) arise from a lateralized network, while in generalized epilepsies (GEs) there is a bilateral involvement from the outset.
Badawy, Radwa, STRIGARO, Gionata, CANTELLO, Roberto, PIZZAMIGLIO, Chiara, Matino, Erica, Falletta, Lina, TONDO, Giacomo   +6 more
core   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Experimental neurobiology of epilepsies

, 1994
Epileptic discharges are a pathological extreme of neuronal synchrony. Experimental models of both focal and primary generalized epilepsies reveal the importance of the interaction of intrinsic (membrane current) properties of neurons and the synaptic ...
Jefferys, J.G.R.
core  

Neonatal epilepsies: Clinical management.

, 2018
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant.
Sands, Tristan T, Marie-Coralie Cornet, Tristan T. Sands, Maria Roberta Cilio, Cilio, Maria-Roberta, Cornet, Marie-Coralie   +5 more
core   +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

Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies

Orphanet Journal of Rare Diseases
Precision treatments for monogenic epilepsies, i.e. treatments that can at least partially reverse the biochemical consequences of a pathogenic gene variant, have been gradually emerging over the years.
Victoria M. Defelippe, Eva H. Brilstra, Willem M. Otte, Ghislaine J. M. W. van Thiel, Helen J. Cross, Finbar O’Callaghan, Valentina De Giorgis, Emilio Perucca, Kees P. J. Braun, Floor E. Jansen   +9 more
doaj   +1 more source