Associated Papers
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
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
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
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
The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.
Chen J et al.
Neuroscience, 2014
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH et al.
Developmental Medicine and Child Neurology, 2013
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S et al.
Nephron. Physiology, 2013
KCNJ10 mutations disrupt function in patients with EAST syndrome.
Freudenthal B et al.
Nephron. Physiology, 2011