SeSAME syndrome

Known as: Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy, EAST syndrome, Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2009-2016
0120092016

Papers overview

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2017
2017
Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive… (More)
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Review
2017
Review
2017
Epithelial K+ channels are essential for maintaining electrolyte and fluid homeostasis in the kidney. It is recognized that… (More)
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2017
2017
Perhaps you will be surprised to find a paper on a canine disease in a journal of human genetics. As indeed, in this edition you… (More)
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Review
2016
Review
2016
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a… (More)
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Review
2015
Review
2015
Inwardly rectifying potassium (Kir) channels exhibit an asymmetrical conductance at hyperpolarization (high conductance) compared… (More)
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2014
2014
The Kir4.1/Kir5.1 channel mediates basolateral K(+) recycling in renal distal tubules; this process is critical for Na… (More)
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2011
2011
Discovery, characterization, and structure–activity relationships of an inhibitor of inward rectifier potassium (Kir) channels… (More)
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2010
2010
Inwardly rectifying potassium channel Kir4.1 is critical for glial function, control of neuronal excitability, and systemic K… (More)
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2010
2010
SeSAME syndrome is a complex disease characterized by seizures, sensorineural deafness, ataxia, mental retardation and… (More)
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Highly Cited
2009
Highly Cited
2009
We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness… (More)
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