East/sesame syndrome and beyond: the spectrum of kir4.1- and kir5.1-associated channelopathies

HIGHLIGHTS

• who: ufeffRichardufeff ufeffWarthufeff and ufeffAnselm A.ufeff ufeffZdebikufeff from the Neuroscience, and Pharmacology, University College London, London, United Kingdom, Medical Cell Biology have published the research work: EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies, in the Journal: (JOURNAL)
• how: In the following the pathophysiology of patients with biallelic Kir5.1 mutations is presented in more detail. the higher frequencies similar to the hearing loss in EAST/ SeSAME syndrome.
• future: Research is needed to place these mutations in the context of all other mutations which invariably . . .
  

   

  

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