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Article

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2012

Scholl Ute I, Dave Haatal B, Lu Ming, Farhi Anita, Nelson-Williams Carol, Listman James A, Lifton Richard P

Abstract excerpt

BACKGROUND: Mutations in the K(+) channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of Gitelman syndrome, with hypokalemic alkalosis, hypomagnesemia, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

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Share to Microscopy, Confocal

Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 22907601
DOI: 10.1007/s00467-012-2219-4

Genes

KCNJ10

Provenance

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SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.PMID 22907601Read ↗

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