Ohtahara syndrome

Disease ID:1179
Name:Ohtahara syndrome
Associated with:1 target
Description
A neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.
Database Links
OMIM: 308350
Orphanet: ORPHA1934

Targets

KNa1.1
Comments:  A KCNT1 mutation has been linked to Ohtahara Syndrome
References:  1

Ligands

No ligand related data available for Ohtahara syndrome

References

Show »

1. Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR et al.. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum. Mol. Genet., 23 (12): 3200-11. [PMID:24463883]