Results 61 to 70 of about 19,097 (250)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Recent advances in the pathogenesis and drug actions in periodic paralyses and related channelophaties

Frontiers in Pharmacology, 2011
The periodic paralysis(PP) are rare autosomal-dominant disorders associated to mutations in the skeletal muscle sodium, calcium and potassium channel genes characterized by muscle fiber depolarization with un-excitability, episodes of weakness with ...
Domenico eTricarico, Diana eConte Camerino   +1 more
doaj   +1 more source

Thermal constraints on in vivo optogenetic manipulations. [PDF]

, 2019
A key assumption of optogenetics is that light only affects opsin-expressing neurons. However, illumination invariably heats tissue, and many physiological processes are temperature-sensitive.
Kreitzer, Anatol C, Liu, Max H, Owen, Scott F   +2 more
core  

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

A molecular toolbox for rapid generation of viral vectors to up- or down-regulate in vivo neuronal gene expression

Frontiers in Molecular Neuroscience, 2011
We introduce a molecular toolbox for manipulation of neuronal gene expression in vivo. The toolbox includes promoters, ion channels, optogenetic tools, fluorescent proteins and intronic artificial microRNAs. The components are easily assembled into adeno-
Melanie D. White, Ruth V.J. Milne, Matthew F. Nolan   +2 more
doaj   +1 more source

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source

Computational Tools for Interpreting Ion Channel pH-Dependence. [PDF]

PLoS ONE, 2015
Activity in many biological systems is mediated by pH, involving proton titratable groups with pKas in the relevant pH range. Experimental analysis of pH-dependence in proteins focusses on particular sidechains, often with mutagenesis of histidine, due ...
Ivan Sazanavets, Jim Warwicker
doaj   +1 more source

GIRK Channels as Candidate Targets for the Treatment of Substance Use Disorders

Biomedicines, 2022
Substance use disorders (SUDs) are chronic, lifelong disorders that have serious consequences. Repeated substance use alters brain function. G-protein-activated inwardly rectifying potassium (GIRK) channels are expressed widely in the brain, including ...
Hiroko Kotajima-Murakami, Soichiro Ide, Kazutaka Ikeda   +2 more
doaj   +1 more source

Stroke Mimic: A Case of Unilateral Thyrotoxic Hypokalemic Periodic Paralysis [PDF]

, 2020
Thyrotoxic hypokalemic periodic paralysis (THPP) is a condition that results in transient skeletal muscle paralysis secondary to intracellular potassium sequestration.
Lajeunesse, Michael, Young, Scott
core