title: [EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].
abstract: Inwardly rectifying potassium (Kir) channels exhibit an asymmetrical conductance at hyperpolarization (high conductance) compared to depolarization (low conductance). The KCNJ10 gene which encodes an inwardly rectifying K+ channel Kir4.1 subunit plays an essential role in the inner ear and hearing. Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes. In this review, we mainly focus on the expression and function of Kir4.1 channels in the inner ear and mutation-induced EAST/SeSAME syndromes to provide insight for understanding the pathogenesis of deafness induced by KCNJ10 deficiency.
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Hongbo
authors.initials: H
authors.lastname: Zhao
mesh_terms: D003638:Deafness / Q000235:genetics / Q000378:metabolism*; D007758:Ear, Inner / Q000378:metabolism*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000378:metabolism*; D012640:Seizures / Q000235:genetics / Q000378:metabolism*; D000098854:Kcnj10 Channel
chemical_list: D000098854:Kcnj10 Channel; D024661:Potassium Channels, Inwardly Rectifying