H00803
H number H00803
Name Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) ;
SeSAME/EAST syndrome
Description Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. This disease links to autosomal recessive mutations in KCNJ10, which encodes the potassium channel.
Category Nervous system disease; Epilepsy; Mental retardation