| Species |
Homo sapiens |
| Epilepsy-Associated Disorder(s) |
spinocerebellar ataxia |
| Description |
spinocerebellar ataxia 10
|
| Chromosome |
22
|
| Locus |
22q13 |
| Reference(s) |
Burgess DL, Matsuura T, Ashizawa T, Noebels JL. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 2000 Jan;41(1):24-7.
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun;74(6):1216-24. Epub 2004 May 04.
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct;26(2):191-4.
|
