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