KEGG   DISEASE: Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
Entry
H00803                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00803  Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
Gene
KCNJ10 [HSA:3766] [KO:K05003]
Other DBs
ICD-11: LD2H.Y
MeSH: C557674
OMIM: 612780
Reference
PMID:21088294
  Authors
Williams DM, Lopes CM, Rosenhouse-Dantsker A, Connelly HL, Matavel A, O-Uchi J, McBeath E, Gray DA
  Title
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
  Journal
J Am Soc Nephrol 21:2117-29 (2010)
DOI:10.1681/ASN.2009121227

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