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Epilepsy, progressive myoclonic 7; EPM7

Disease ID:1162
Name:Epilepsy, progressive myoclonic 7; EPM7
Associated with:1 target
Synonyms
Progressive myoclonus epilepsy
Database Links
Disease Ontology: DOID:891
OMIM: 616187

Targets

Kv3.1
References:  1
Mutations:  Kv3.1 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, progressive myoclonic 7; EPM7

References

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1. Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R et al.. (2015) A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat. Genet., 47 (1): 39-46. [PMID:25401298]