Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy

Disease ID:1166
Name:Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy
Associated with:1 target

Targets

Kv4.3
References:  1
Mutations:  Kv4.3 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy

References

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1. Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N et al.. (2015) First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med. Genet., 16: 51. [PMID:26189493]