ArticlePediatric nephrology (Berlin, Germany)2012
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 58 citations in OpenAlex.
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Müller cell markers in aqueous humor of patients with type-2 macular telangiectasia.Indian journal of ophthalmology · 2026Article
- Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Navigating the multifaceted intricacies of the NaPhysiological reviews · 2024Review
- Low potassium activation of proximal mTOR/AKT signaling is mediated by Kir4.2.Nature communications · 2024Article
- Magnesium (MgCurrent pharmaceutical design · 2024Review
- Inward rectifier potassium (Kir) channels in the retina: living our vision.American journal of physiology. Cell physiology · 2022Review
- EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.Frontiers in physiology · 2022Review
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearingIntractable & rare diseases research · 2021Article
- Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.Clinical kidney journal · 2021Review
- Bartter and Gitelman syndromes: Questions of class.Pediatric nephrology (Berlin, Germany) · 2020Review
- Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.Neurogenetics · 2020Article
- Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.Frontiers in neurology · 2020Review
- HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.Kidney international reports · 2019Article
- NovelFrontiers in genetics · 2019Article
- Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.Cerebellum (London, England) · 2018Article
- Lethal digenic mutations in the KJournal of neurophysiology · 2017Article
- Genetic causes of hypomagnesemia, a clinical overview.Pediatric nephrology (Berlin, Germany) · 2017Review
- The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.European journal of human genetics : EJHG · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations 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 hypocalciuria. Presentation early in life due to seizures provides an opportunity to investigate the development of the electrolyte defect with age.
methodsWe used DNA sequencing, electrophysiology, confocal imaging, and biochemistry to identify a new KCNJ10 mutation in a previously unreported family and determine its impact on channel function. We examined medical records to follow the development of electrolyte disorders with age.
resultsThe four affected members were all homozygous for a novel T57I mutation that confers biochemical loss-of-function. Electrolytes in affected children were normal in the first years of life but showed significant worsening with age, resulting in clinically significant defects at age 5-8 years. Similar findings were seen in other SeSAME patients.
conclusionsThese findings provide evidence for a delayed activity of salt reabsorption by the distal convoluted tubule and suggest an explanation for the delayed clinical presentation of subjects with Gitelman syndrome.
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