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
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Morin M et al.
Neurogenetics, 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
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
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S et al.
Nephron. Physiology, 2013
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