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Diseases

Genetic and Rare Diseases Information Center (GARD)

SeSAME syndrome


Other Names for this Disease
  • Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
  • Epilepsy, ataxia, sensorineural deafness and tubulopathy
  • EAST syndrome
  • Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
  • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

SeSAME syndrome is characterized by  Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[1] Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by mutations in the KCNJ10 gene, and inherited in an autosomal recessive pattern. Treatment includes antiepileptic medication, physical, educational and speech therapy, hearing aid and management of the kidney and electrolytes problems.[1][2]
Last updated: 4/22/2016

References

  1. Síndrome EAST. Orphanet. October, 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=18406.
  2. Cross JH. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol. September, 2013; 55(9):846-56. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298033/.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SeSAME syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
  • Epilepsy, ataxia, sensorineural deafness and tubulopathy
  • EAST syndrome
  • Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
  • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.