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...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Taylor & Francis
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961265/ |