Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Neurobiol Dis 71:270-9 (2014)
DOI:10.1016/j.nbd.2014.08.020

Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Cerebellum 12:932-6 (2013)
DOI:10.1007/s12311-013-0507-6

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

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Nat Genet 38:447-51 (2006)
DOI:10.1038/ng1758

Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Nemeth AH

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Brain 138:1817-32 (2015)
DOI:10.1093/brain/awv117