| 1 | SCN8A, CAAMR |
| Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. | |
| Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. | |
| J Med Genet 43(6):527-30. Epub 2005 Oct 19. 2006 | |