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Epilepsy and Autism

Disease ID:1167
Name:Epilepsy and Autism
Associated with:1 target

Targets

Kv4.2
References:  1
Mutations:  Kv4.2 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy and Autism

References

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1. Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. (2014) Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Hum Mol Genet, 23 (13): 3481-9. [PMID:24501278]