Gene Review:
SCN8A - sodium channel, voltage gated, type VIII...
Homo sapiens
Synonyms:
CERIII, CIAT, CerIII, EIEE13, MED, ...
- Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Burgess, D.L., Kohrman, D.C., Galt, J., Plummer, N.W., Jones, J.M., Spear, B., Meisler, M.H. Nat. Genet. (1995)
- Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Plummer, N.W., Galt, J., Jones, J.M., Burgess, D.L., Sprunger, L.K., Kohrman, D.C., Meisler, M.H. Genomics (1998)
- The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. Reid, E., Escayg, A., Dearlove, A.M., Meisler, M.H., Rubinsztein, D.C. J. Med. Genet. (2001)
- Molecular changes in neurons in multiple sclerosis: altered axonal expression of Nav1.2 and Nav1.6 sodium channels and Na+/Ca2+ exchanger. Craner, M.J., Newcombe, J., Black, J.A., Hartle, C., Cuzner, M.L., Waxman, S.G. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Trudeau, M.M., Dalton, J.C., Day, J.W., Ranum, L.P., Meisler, M.H. J. Med. Genet. (2006)
- Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Sprunger, L.K., Escayg, A., Tallaksen-Greene, S., Albin, R.L., Meisler, M.H. Hum. Mol. Genet. (1999)
- Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Weber, A., Wienker, T.F., Jung, M., Easton, D., Dean, H.J., Heinrichs, C., Reis, A., Clark, A.J. Hum. Mol. Genet. (1996)
- Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. Raymond, C.K., Castle, J., Garrett-Engele, P., Armour, C.D., Kan, Z., Tsinoremas, N., Johnson, J.M. J. Biol. Chem. (2004)
- Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. Plummer, N.W., McBurney, M.W., Meisler, M.H. J. Biol. Chem. (1997)
- Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes. Wasserman, D., Geijer, T., Rozanov, V., Wasserman, J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005)
- Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6. Shirahata, E., Iwasaki, H., Takagi, M., Lin, C., Bennett, V., Okamura, Y., Hayasaka, K. J. Neurophysiol. (2006)
- Expression and distribution of voltage-gated sodium channels in the cerebellum. Schaller, K.L., Caldwell, J.H. Cerebellum (2003)
- Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase. Wittmack, E.K., Rush, A.M., Hudmon, A., Waxman, S.G., Dib-Hajj, S.D. J. Neurosci. (2005)
- Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties. Herzog, R.I., Liu, C., Waxman, S.G., Cummins, T.R. J. Neurosci. (2003)