Results 71 to 80 of about 3,106 (169)
Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2558-2568, December 2025.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
Molecular Medicine Reports, 2017 Potassium channels can be affected by epileptic seizures and serve a crucial role in the pathophysiology of epilepsy. Dimethylation of histone 3 lysine 9 (H3K9me2) and its enzyme euchromatic histone‑lysine N‑methyltransferase 2 (G9a) are the major epigenetic modulators and are associated with gene silencing.
Shao-Ping, Zhang +10 more
openaire +3 more sources
Aquaporin-4-dependent K(+) and water transport modeled in brain extracellular space following neuroexcitation. [PDF]
, 2013 Potassium (K(+)) ions released into brain extracellular space (ECS) during neuroexcitation are efficiently taken up by astrocytes. Deletion of astrocyte water channel aquaporin-4 (AQP4) in mice alters neuroexcitation by reducing ECS [K(+)] accumulation ...
Binder, Devin K +3 more
core +2 more sources
The Concise Guide to PHARMACOLOGY 2025/26: Ion channels
British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +86 more
wiley +1 more source
The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion [PDF]
, 2016 Citation: Miyazaki, H., Wangemann, P., & Marcus, D. C. (2016). The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion. BMC Physiology, 17(1), 1.
Marcus, Daniel C. +2 more
core +1 more source
Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction
Epilepsia, Volume 66, Issue 12, Page 4624-4638, December 2025.Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott +2 more
wiley +1 more source
Medicinal Research Reviews, Volume 45, Issue 6, Page 1547-1563, November 2025.ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar +4 more
wiley +1 more source
Epilepsia, Volume 66, Issue 11, Page 4139-4161, November 2025.Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire +9 more
wiley +1 more source
Gestational and early postnatal hypothyroidism alters VGluTi and VGAT bouton distribution in the neocortex and hippocampus, and behavior in rats [PDF]
, 2015 The Supplementary Material for this article can be found online at: http://www.frontiersin.org/journal/10.3389/fnana. 2015.00009/abstractThyroid hormones are fundamental for the expression of genes involved in the development of the CNS and their ...
Daniela eNavarro +7 more
core +3 more sources
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1648-1659, August 2025.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source