SeSAME syndrome

Common Name(s)

SeSAME syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SeSAME syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "SeSAME syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.
 

Author(s): Marc Paulais, May Bloch-Faure, Nicolas Picard, Thibaut Jacques, Suresh Krishna Ramakrishnan, Mathilde Keck, Fabien Sohet, Dominique Eladari, Pascal Houillier, St├ęphane Lourdel, Jacques Teulon, Stephen J Tucker

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2011 Jun;108(25):10361-6.

 

The heteromeric inwardly rectifying Kir4.1/Kir5.1 K(+) channel underlies the basolateral K(+) conductance in the distal nephron and is extremely sensitive to inhibition by intracellular pH. The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted ...

Last Updated: 22 Jun 2011

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Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
 

Author(s): David M Williams, Coeli M B Lopes, Avia Rosenhouse-Dantsker, Heather L Connelly, Alessandra Matavel, Jin O-Uchi, Elena McBeath, Daniel A Gray

Journal: J. Am. Soc. Nephrol.. 2010 Dec;21(12):2117-29.

 

SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnormalities. This disease links to autosomal recessive mutations in KCNJ10, which encodes the Kir4.1 ...

Last Updated: 1 Dec 2010

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Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
 

Author(s): Monica Sala-Rabanal, Lilia Y Kucheryavykh, Serguei N Skatchkov, Misty J Eaton, Colin G Nichols

Journal: J. Biol. Chem.. 2010 Nov;285(46):36040-8.

 

Inwardly rectifying potassium channel Kir4.1 is critical for glial function, control of neuronal excitability, and systemic K(+) homeostasis. Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, ataxia, seizures, hearing loss, ...

Last Updated: 8 Nov 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "SeSAME syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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