Conditions / Syndrome
EAST syndrome
info · Syndrome
A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
Signs and symptoms
- Renal sodium wasting
- Ataxia
- Hypomagnesemia
- Elevated serum bicarbonate concentration
- Hypokalemic metabolic alkalosis
- Global developmental delay
- Sensorineural hearing impairment
- Renal potassium wasting
- Hypokalemia
- Renal salt wasting
Also known as: SeSAME syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance