Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

EAST syndrome

EAST syndrome is an autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance

Symptoms

Deafness
Sensorineural deafness in EAST syndrome results from endolyphatic electrolyte dysbalance.

Systematic

Hereditary Salt-wasting tubulopathies
Bartter syndrome
EAST syndrome
KCNJ10
Gitelman syndrome
Hypomagnesemia

References:

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 [^]
6.

Orphanet article

Orphanet ID 199343 [^]
7.

Wikipedia article

Wikipedia EN (EAST_syndrome) [^]
Update: April 29, 2019