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