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Ohtahara syndrome

Disease ID:1179
Name:Ohtahara syndrome
Associated with:1 target
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


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


No ligand related data available for Ohtahara syndrome


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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]