East/sesame syndrome
Synonym(s)
EAST syndrome; Epilepsy ataxia sensorineural hearing loss tubulopathy syndrome; OMIM: 612780; SESAME Syndrome
HistoryThis section has been translated automatically.
Bockenhauer and Scholl 2009
DefinitionThis section has been translated automatically.
EAST/SeSAME syndrome is a rare autosomal recessive inherited disorder characterized by cerebral spasms, sensorineural hearing loss, ataxia, intellectual deficit and electrolyte disorders (hypokalemia, metabolic alkalosis, hypomagnesemia).
It was initially described in 5 patients from 4 families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene (1q23.2), which codes for (inwardly rectifying potassium channel)Kir 4.1, an inwardly rectifying potassium channelexpressed in the brain, inner ear and kidneys. In the meantime, further affected families (Celmina M et al. 2019) and new mutations have been reported (Nadella RK et al. 2019)
Occurrence/EpidemiologyThis section has been translated automatically.
Incidence: <1:100,000
LiteratureThis section has been translated automatically.
- Celmina M et al (2019) EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients. Clin Genet 95:63-78.
- Nadella RK et al (2019) Identification and functional characterization of two novel mutaions in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. Hum Genomics 13:53.