SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP. SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule. Pediatric Nephrology 2012, 27: 2081-2090. PMID: 22907601, DOI: 10.1007/s00467-012-2219-4.Peer-Reviewed Original ResearchMeSH KeywordsAbsorptionAge FactorsBiomarkersChildDNA Mutational AnalysisElectrolytesFemaleGenetic Predisposition to DiseaseHearing Loss, SensorineuralHEK293 CellsHomozygoteHumansInfantIntellectual DisabilityKidney Tubules, DistalMaleMembrane PotentialsMicroscopy, ConfocalMutationPedigreePhenotypePotassium Channels, Inwardly RectifyingPredictive Value of TestsSeizuresTransfectionConceptsGitelman syndromeAutosomal recessive syndromeRenal featuresElectrolyte disordersHypokalemic alkalosisClinical presentationElectrolyte imbalanceMedical recordsSignificant worseningBiochemical lossSensorineural deafnessSalt reabsorptionConclusionsThese findingsRecessive syndromeSimilar findingsSyndromeAge 5Mental retardationUnreported familiesSeizuresChannel functionAgeAffected membersFirst yearTubules