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EAST syndrome

Disease definition

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

ORPHA:199343

  • Synonym(s):
    • SeSAME syndrome
    • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 612780
  • UMLS: C2748572
  • MeSH: -
  • GARD: 10514
  • MedDRA: -

Summary

Epidemiology

It has been described in five patients from four families.

Etiology

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.

Genetic counseling

Transmission is autosomal recessive.

Expert reviewer(s):  Dr Ségolène AYME - Last update: October 2009

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