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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

Morin, Matias ; Forst, Anna-Lena ; Pérez-Torre, Paula ; Jiménez-Escrig, Adriano ; Barca-Tierno, Verónica ; García-Galloway, Eva ; Warth, Richard ; Lopez-Sendón Moreno, Jose Luis ; Moreno-Pelayo, Miguel Angel


KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Patients with EAST/SeSAME syndrome display renal salt wasting and electrolyte imbalance that ...


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