Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions (original) (raw)

References

• Angaut-Petit, D., J. J. McArdle, A. Mallart, R. Bournaud, M. Pincon-Raymond & F. Riegers, 1982. Electrophysiological and morphological studies of a motor nerve in ‘motor endplate disease’ of the mouse. Proc. Royal. Soc. Lond. B Biol. Sci. 215:117–125.
  Google Scholar
• Bournaud, R. & A. Mallart, 1987. Potassium channel blockers and impulse propagation in murine motor endplate disease. Muscle Nerve 10:1–5.
  PubMed Google Scholar
• Buchner, D. A.,M. Trudeau, A. L. George Jr., L. K. Sprunger & M. H. Meisler,2003a.High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1. 3–kb recombination hot spot.Genomics 82:452–459.
  PubMed Google Scholar
• Buchner, D. A., M. Trudeau & M. H. Meisler,2003b. SCNM1, aputative RNA splicing factor that modifies disease severity in mice.Science301:967–969.
  PubMed Google Scholar
• Bulman, D. E., 1997. Phenotype variation and newcomers in ion channel disorders. Hum. Mol. Gen. 6:1679–1685.
  PubMed Google Scholar
• Burgess, D. L.,D. C. Kohrman, J. Galt, N. W. Plummer, J.M. Jones, B. Spear & M. H. Meisler, 1995. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease'. Nat. Genet. 10:461–465.
  PubMed Google Scholar
• Caldwell, J. H., K. L. Schaller, R. S. Lasher, E. Peles & S. R. Levinson, 2000. Sodium channel Nav l. 6 is localized at nodes of Ranvier, dendrites, and synapses. Proc. Natl. Acad. Sci. USA 97:5616–5620.
  PubMed Google Scholar
• Chen, K., L. K. Sprunger, M. H. Meisler, H. J. Haller & D. A. Godfrey, 1999. Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Res. 847:85–89.
  PubMed Google Scholar
• Dick, D. J., R. J. Boakes & J. B. Harris, 1985. A cerebellar abnormality in the mouse with motor end-plate disease. Neuropath. Appl. Neurobiol. 11:141–147.
  Google Scholar
• Dietrich, P. S., J. G. McGivern, S. G. Delgado, B. D. Koch, R. M. Eglen, J. C. Hunter & L. Sangameswaran, 1998. Functional analysis of a voltage-gated sodium channel and its splice variant from rat dorsal root ganglia. J. Neurochem. 70: 2262–2272.
  PubMed Google Scholar
• Dipple, K. M. & E. R. B. McCabe, 2000. Phenotypes of patients with “simple” mendelian disorders are complex traits: thresholds, modifiers and systems dynamics. Am. J. Hum. Genet. 67:1729–1735.
  Google Scholar
• Duchen, L. W. & E. Stefani, 1971. Electrophysiological studies of neuromuscular transmission in hereditary ‘motor end-plate disease’ of the mouse. J. Physiol. 212:535–548.
  PubMed Google Scholar
• Duchen, L. W., A. G. Searle & S. J. Strich, 1967. An hereditary motor end-plate disease in the mouse. J. Physiol. 189:4–6.
  Google Scholar
• Escayg, A., B. T. MacDonald, M. H. Meisler, S. Baulac, G. Huberfeld, I. An-Gourfinkel, A. Brice, E. LeGuern, B. Moulard, D. Chaigne, C. Buresi & A. Malafosse, 2000. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24:343–345.
  PubMed Google Scholar
• Füchtbauer, E. M., 1987. Nerve transplantation shows that motor end-plate disease is not a primary Schwann cell defect. Exp. Neurol. 97:135–142.
  PubMed Google Scholar
• Garcia, K. D., L. K. Sprunger, M. H. Meisler & K. G. Beam, 1998. The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons. J. Neurosci. 18:5234–5239.
  PubMed Google Scholar
• Harris, J. B., R. J. Boakes & J. A. Court, 1992. Physiological and biochemical studies on the cerebellar cortex of the murine mutants “jolting” and “motor end-plate disease”. J. Neurol. Sci. 110:186–194.
  PubMed Google Scholar
• Kearney, J. A., D. A. Buchner, G. de Haan, M. Adamska, S. I. Levin, A. R. Furay, R. L. Albin, J. M. Jones, M. Montal, M. J. Stevens, L. K. Sprunger & M. H. Meisler, 2002. Molecular and pathological e. ects of a modifier gene onde ciency of the sodium channel Scn8a (Nav 1. 6). Hum. Mol. Genet. 11:2765–2775.
  PubMed Google Scholar
• Kohrman, D. C., N. W. Plummer, T. Schuster, J. M. Jones, W. Jang, D. L. Burgess, J. Galt, B. T. Spear & M. H. Meisler, 1995. Insertional mutation of the motor endplate disease (med )locus on mouse chromosome 15. Genomics 26:171–177.
  PubMed Google Scholar
• Kohrman, D. C., J. B. Harris & M. H. Meisler, 1996a. Mutation detection in the med and med j alleles of the sodium channel Scn8a:unusual patterns of exon skipping are influenced by a minor class AT-AC intron. J. Biol. Chem. 271:17576–17581.
  PubMed Google Scholar
• Kohrman, D. C., M. R. Smith, A. L. Goldin, J. B. Harris & M. H. Meisler, 1996b. A missense mutation in the sodium channel gene Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci. 16:5993–5999.
  PubMed Google Scholar
• Krzemien, D. M., K. L. Schaller, S. R. Levinson & J. H. Caldwell, 2000. Immunolocalization of sodium channel isoform NaCh6 in the nervous system. J. Comp. Neurol. 420:70–83.
  PubMed Google Scholar
• Maurice, N., T. Tkatch, M. H. Meisler, L. K. Sprunger & D. J. Surmeier, 2001. D1 /D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J. Neurosci. 21:2268–2277.
  PubMed Google Scholar
• Meisler, M. H., J. Galt, J. Weber, J. M. Jones, D. L. Burgess & D. C. Kohrman, 1997. Isolation of mutated genes from transgene insertion sites, pp. 505–520 in Microinjection and Transgenesis of Cultured Cells and Embryos, edited by A. Cid & Garcia-Carranca, Springer, New York, NY.
  Google Scholar
• Planells-Cases, R., M. Caprini, J. Zhang, E. M. Rockenstein, R. R. Rivera, C. Murre, E. Masliah & M. Montal, 2000. Neuronal death and perinatal lethality in voltage-gated sodium channel alpha (II)-de cient mice. Biophys. J. 78: 2878–2891.
  PubMed Google Scholar
• Plummer, N. W. & M. H. Meisler, 1999. Evolution and diversity of the mammalian voltage-gated sodium channels. Genomics 57:323–331.
  PubMed Google Scholar
• Plummer, N. W., J. Galt, J. M. Jones, D. L. Burgess, L. K. Sprunger, D. C. Kohrman & M. H. Meisler, 1998. Exon organization, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics 54:287–296.
  PubMed Google Scholar
• Raman, I. M., L. K. Sprunger, M. H. Meisler & B. P. Bean, 1997. Altered subthreshold sodium currents and disrupted ring patterns in Purkinje neurons of Scn8a mutant mice. Neuron 19:881–891.
  PubMed Google Scholar
• Ramesh, T. M., A. W. Ellis & B. T. Spear, 1995. Individual mouse alpha-fetoprotein enhancer elements exhibit di. erent patterns of tissue-speciffic and hepatic position-dependent activities. Mol. Cell Biol. 15:4947–4955.
  PubMed Google Scholar
• Rieger, F., M. Pincon-Raymond, A. Lombet, G. Ponzio, M. Lazdunski & R. L. Sidman, 1984. Paranodal dysmyeli-nation and increase in tetrodotoxin binding sites in the sciatic nerve of the motor end-plate disease (med/med )mouse during postnatal development. Dev. Biol. 101:401–409.
  PubMed Google Scholar
• Schaller, K. L. & J. H. Caldwell, 2000. Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system. J. Comp. Neurol. 420:84–97.
  PubMed Google Scholar
• Schaller, K. L., D. M. Krzemien, P. J. Yarowsky, B. K. Krueger & J. H. Caldwell, 1995. A novel, abundant sodium channel expressed in neurons and glia. J. Neurosci. 15:3231–3242.
  PubMed Google Scholar
• Sidman, R. L., J. S. Cowen & E. M. Eicher, 1979. Inherited muscle and nerve diseases in mice:a tabulation and commentary. Ann. NY Acad. Sci. 317:497–505.
  PubMed Google Scholar
• Smith, M. R. & A. L. Goldin, 1999. A mutation that causes ataxia shifts the voltage-dependence of the Scn8a sodium channel. Neuroreport 10:3027–3031.
  PubMed Google Scholar
• Spear, B. T., 1994. Mouse alpha-fetoprotein gene 5 ¢regulatory elements are required for postnatal regulation by raf and Rif. Mol. Cell. Biol. 14:6497–6505.
  PubMed Google Scholar
• Sprunger, L. K., A. Escayg, S. Tallaksen-Greene, R. L. Albin & M. H. Meisler, 1999. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum. Mole. Genet. 8:471–479.
  Google Scholar
• Trudeau, M. M., J. D. Dalton, J. W. Day, L. P. W. Ranum & M. H. Meisler, 2004. Heterozygosity for a truncation allele of sodium channel SCN8A in a family with ataxia and cognitive impairment. Am. J. Hum. Genet. electronic supplement at www. ashg. org
• Tzoumaka, E., A. C. S. L. Tischler, R. M. Eglen, J. C. Hunter & S. D. Novakovic, 2000. Di. erential distribution of the tetrodotoxin-sensitive rPN4/NaCh6/Scn8a sodium chanel in the nervous system. J. Neurosci. Res. 60:37–44.
  PubMed Google Scholar
• Weiss, L. A., A. Escayg, J. A. Kearney, M. Trudeau, B. T. MacDonald, M. Mori, J. Reichert, J. D. Buxbaum & M. H. Meisler, 2003. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychol. 8:186–194.
  Google Scholar

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