Condition: SeSAME syndrome


rs137853066 in KCNJ10 gene and SeSAME syndrome PMID 19420365 2009 Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

PMID 19289823 2009 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 24561201 2014 Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.