Associated Papers
Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.
Shakeri S et al.
Molecular Genetics & Genomic Medicine, 2026
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
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
Yari A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.
Li YL et al.
Annals of Neurology, 2024
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
Emerging Roles of Astrocyte Kir4.1 Channels in the Pathogenesis and Treatment of Brain Diseases.
Ohno Y et al.
International Journal of Molecular Sciences, 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
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK et al.
Human Genomics, 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 KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.
Zhang H et al.
Frontiers in 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
Role and mechanisms of regulation of the basolateral Kir 4.1/Kir 5.1K+ channels in the distal tubules.
Palygin O et al.
Acta Physiologica (oxford, England), 2017
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
The role of glial-specific Kir4.1 in normal and pathological states of the CNS.
Nwaobi SE et al.
Acta Neuropathologica, 2016
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
Abdelhadi O et al.
Rare Diseases (austin, Tex.), 2016
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
Slaats GG et al.
Journal of Cell Science, 2015
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
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
Tanemoto M et al.
Febs Letters, 2014
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S et al.
Nephron. Physiology, 2013
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
Bandulik S et al.
Pflugers Archiv : European Journal of Physiology, 2011
KCNJ10 mutations disrupt function in patients with EAST syndrome.
Freudenthal B et al.
Nephron. Physiology, 2011
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
Williams DM et al.
Journal of the American Society of Nephrology : Jasn, 2010
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
Sala-Rabanal M et al.
The Journal of Biological Chemistry, 2010
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.
Tang X et al.
Biochemical and Biophysical Research Communications, 2010
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Scholl UI et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009