Spinocerebellar ataxia 19; SCA19

Disease ID:879
Name:Spinocerebellar ataxia 19; SCA19
Associated with:1 target
Synonyms
Spinocerebellar ataxia 22; SCA22 | Spinocerebellar ataxia type 19/22
Database Links
OMIM: 607346
Orphanet: ORPHA98772

Targets

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

Ligands

No ligand related data available for Spinocerebellar ataxia 19; SCA19

References

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1. Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P et al.. (2012) Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann. Neurol., 72 (6): 870-80. [PMID:23280838]

2. Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML et al.. (2012) Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann. Neurol., 72 (6): 859-69. [PMID:23280837]

3. Pulst SM, Otis TS. (2012) Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann. Neurol., 72 (6): 829-31. [PMID:23280833]