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EAST syndrome

Synonyms
Epilepsy, ataxia, sensorineural deafness and tubulopathy; SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; SeSAME syndrome; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive. [from SNOMEDCT_US]

Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, KCNJ10
    Summary: potassium inwardly rectifying channel subfamily J member 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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