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 |
Network | - |
Gene | KCNJ10 [HSA:3766] [KO:K05003] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 |