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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
Classification level: Disorder- Synonym(s):
- Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
- Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
- SeSAME syndrome
- Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
- Seizures-sensorineural hearing loss-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.
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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