Results 41 to 50 of about 1,208,260 (137)

Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy

Neuropsychiatric Disease and Treatment, 2020
Haoyue Zhu, Mengqi Zhang, Yujiao Fu, Hongyu Long, Wenbiao Xiao, Li Feng, Bo Xiao, Luo Zhou Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People’s Republic of ChinaCorrespondence: Luo ZhouDepartment of ...
Zhu H, Zhang M, Fu Y, Long H, Xiao W, Feng L, Xiao B, Zhou L   +7 more
doaj  

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, Volume 28, Issue 4, Page 1252-1273, August 2026.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Transcriptional Response to Chronic Long‐Access Fentanyl Self‐Administration in Rat Habenula and Amygdala

Addiction Biology, Volume 31, Issue 7, July 2026.
Chronic intravenous long‐access fentanyl self‐administration in rats produced transcriptional remodeling in the habenula and amygdala. Bulk RNA‐sequencing identified 453 habenula and 3,041 amygdala differentially expressed genes, revealing upregulation of synaptic process and ionic conductance genes in habenula, upregulation of metabolic and vesicular ...
Robin Magnard, Daianna Gonzalez‐Padilla, Ege A. Yalcinbas, Emma Chaloux‐Pinette, Nicholas J. Eagles, Michael S. Totty, Patricia H. Janak, Leonardo Collado‐Torres, Kristen R. Maynard   +8 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Non-technical summary Light stimulates ion flow through the retina. This generates a potential change at the cornea which is recorded as an electroretinogram (ERG).
Freudenthal B, Kleta R, Warth R, Bockenhauer D, Hulton SA, van't Hoff W, Feather S, Stanescu HC, Wassmer E, Zdebik AA, Sheridan E, Thompson DA, Ognjanovic M, Dobbie A, Russell-Eggitt I   +14 more
core   +5 more sources

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

, 2005
Purpose: Quantitative trait loci (QTL) mapping in mice revealed a seizure-related QTL (Szs1), for which the inward-rectifying potassium channel Kcnj10 is the most compelling candidate gene.
Lenzen, K.P., Lorenz, S., Hoefels, S., Lohoff, F.W., Heils, A., Hempelmann, A., Schmitz, B., Sander, T.   +7 more
core   +1 more source

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. [PDF]

, 2009
peer reviewedWe describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
Choi, Murim, Ramaekers, Vincent Thomas, Liu, Tiewen, Tobe, Sheldon W, RAMAEKERS, Vincent, Lifton, Richard P, Lifton, Richard P., Hausler, Martin G, Farhi, Anita, Grimmer, Joanne, Häusler, Martin Georg, Scholl, Ute I, Scholl, Ute Ingrid, Tobe, Sheldon W., Nelson-Williams, Carol   +14 more
core   +1 more source

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.

, 2004
PURPOSE: Our research program uses genetic linkage and association analysis to identify human seizure sensitivity and resistance alleles. Quantitative trait loci mapping in mice led to identification of genetic variation in the potassium ion channel gene
Buono, R J, Sperling, M R, Ryan, S G, Berrettini, W H, Ferraro, T N, O\u27Connor, M J, Sander, T, Scattergood, T M, Zhao, H, Dlugos, D J, Lohoff, F W, Golden, G T   +11 more
core   +2 more sources

KCNJ10 Determines the Expression of the Apical Na-Cl Cotransporter (NCC) in the Early Distal Convoluted Tubule (DCT1)

, 2014
The renal phenotype induced by loss-of-function mutations of inwardly rectifying potassium channel (Kir), Kcnj10 (Kir4.1), includes salt wasting, hypomagnesemia, metabolic alkalosis and hypokalemia. However, the mechanism by which Kir.4.1 mutations cause
Zhang, Chengbiao, Giebisch, Gerhard, Wang, Wen-Hui, Wang, Lijun, Lin, Dao-Hong, Zhang, Junhui, Scholl, Ute I, Lifton, Richard P, Su, Xiao-Tong   +8 more
core   +1 more source