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ORPHA:199343Disease
Also called 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
What it is
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
16- Abnormal urinary electrolyte concentration
- Ataxia
- Generalized-onset seizure
- Global developmental delay
- Hypokalemia
- Hypomagnesemia
- Increased circulating aldosterone concentration
- Increased circulating renin level
- Intellectual disability
- Metabolic alkalosis
- Renal magnesium wasting
- Renal salt wasting
- Renal sodium wasting
- Salt craving
- Seizure
- Sensorineural hearing impairment
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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