Associated Papers
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Li M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S et al.
Nature Communications, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Suzumoto Y et al.
Intractable & Rare Diseases Research, 2021
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Morin M et al.
Neurogenetics, 2020
Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.
Kinboshi M et al.
Frontiers in Neurology, 2020
Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
Mir A et al.
Brain & Development, 2019
Corrigendum to "Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10" [Brain Dev 2019].
Mir A et al.
Brain & Development, 2019
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M et al.
Clinical Genetics, 2019
Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
Al Dhaibani MA et al.
Journal of Neurogenetics, 2018
Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report.
Papavasiliou A et al.
Sage Open Medical Case Reports, 2017
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
Abdelhadi O et al.
Rare Diseases (austin, Tex.), 2016
Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.
Dai AI et al.
Journal of Child Neurology, 2015
The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.
Chen J et al.
Neuroscience, 2014
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S et al.
Nephron. Physiology, 2013
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Scholl UI et al.
Pediatric Nephrology (berlin, Germany), 2012