Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
EAST syndrome is an autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
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Sensorineural deafness in EAST syndrome results from endolyphatic electrolyte dysbalance. |
Hereditary Salt-wasting tubulopathies
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Bartter syndrome
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EAST syndrome
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KCNJ10
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Gitelman syndrome
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Hypomagnesemia
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| 1. |
Neusch C et al. (2001) Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. 
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| 2. |
Rozengurt N et al. (2003) Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.
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| 3. |
Scholl UI et al. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
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| 4. |
Bockenhauer D et al. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
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| 5. |
OMIM.ORG article Omim 612780
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| 6. |
Orphanet article Orphanet ID 199343
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| 7. |
Wikipedia article Wikipedia EN (EAST_syndrome)
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