Diseases title

EAST syndrome )

Chemistry
Orpha Number: 199343
Synonym(s):
Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance, SeSAME syndrome

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). It has been described in five patients from four families. 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. Transmission is autosomal recessive.
source: Orphanet