Species | Homo sapiens |
Epilepsy-Associated Disorder(s) | pyridoxine-dependent epilepsy |
Description | epilepsy, pyridoxine-dependent |
Chromosome | 5 |
Locus | 5q31.2-q31.3 |
Reference(s) | Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet. 2000 Oct;67(4):991-3. Epub 2000 Sep 07. |