eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | east syndrome |
| Comorbidity | C0004134|ataxia |
| Sentences | 1 |
| PubMedID- 24204377 | For example, the atp-dependent inward rectifier potassium channel gene kcnj10 (originally identified to carry pathogenic epilepsy alleles causing sesame syndrome with ataxia, sensorineural hearing loss and tubulopathy; bockenhauer et al., 2009), was identified to carry missense mutations that altered highly conserved residues in two unrelated families with seizures and asd (sicca et al., 2011). |
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