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
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
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
Severino M et al.
Journal of Neurology, 2018
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