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EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a rena...
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| Vydáno v: | Rare Dis |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Taylor & Francis
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4961265/ https://ncbi.nlm.nih.gov/pubmed/27500072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2016.1195043 |
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