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EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1318-1322, 2015.
Artigo em Chinês | WPRIM | ID: wpr-749178
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.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Convulsões / Canais de Potássio Corretores do Fluxo de Internalização / Surdez / Genética / Perda Auditiva Neurossensorial / Orelha Interna / Deficiência Intelectual / Metabolismo / Mutação Limite: Humanos Idioma: Chinês Revista: Journal of Clinical Otorhinolaryngology Head and Neck Surgery Ano de publicação: 2015 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Convulsões / Canais de Potássio Corretores do Fluxo de Internalização / Surdez / Genética / Perda Auditiva Neurossensorial / Orelha Interna / Deficiência Intelectual / Metabolismo / Mutação Limite: Humanos Idioma: Chinês Revista: Journal of Clinical Otorhinolaryngology Head and Neck Surgery Ano de publicação: 2015 Tipo de documento: Artigo