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SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
ORPHA:199343Classification level: Disorder
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: 612780
- UMLS: C2748572
- MeSH: -
- GARD: 10514
- MedDRA: -
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.
- Clinical genetics review
- English (2019)