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  2. Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)

Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)

Definition:

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.

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