Citations for
1KCNC3, SCA13
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM.
Nat Genet 38(4):447-51. Epub 2006 Feb 26. 2006
2SCA13
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
Waters MF, Fee D, Figueroa KP, Nolte D, Muller U, Advincula J, Coon H, Evidente VG, Pulst SM.
Neurology 65(7):1111-3. Epub 2005 Aug 31. 2005
3SCA13
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Durr A, Brice A.
Am J Hum Genet 67(1):229-35. 2000