Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES

Disease ID:846
Name:Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES
Associated with:1 target
Synonyms
EAST syndrome
Database Links
OMIM: 612780
Orphanet: ORPHA199343

Targets

Kir4.1
Role:  Role in K+ transport
References:  1-2

Ligands

No ligand related data available for Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES

References

Show »

1. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G et al.. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med., 360 (19): 1960-70. [PMID:19420365]

2. Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. U.S.A., 106 (14): 5842-7. [PMID:19289823]