The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

Human Molecular Genetics

Volumn 16, Issue 23, 2007, Pages 2892-2899

  Martin, Melinda S ^a   Tang, Bin ^a   Papale, Ligia A ^b   Yu, Frank H ^c   Catterall, William A ^c   Escayg, Andrew ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLUROTHYL; KAINIC ACID; VOLTAGE GATED SODIUM CHANNEL;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CENTRAL NERVOUS SYSTEM; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA MODIFICATION; FEBRILE CONVULSION; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENERALIZED EPILEPSY; GENOME; HETEROZYGOSITY; INFANCY; LETHALITY; LIFESPAN; MAMMAL; MENTAL DISEASE; MOTOR DYSFUNCTION; MOUSE; MOUSE MUTANT; MYOCLONUS EPILEPSY; NERVE CELL EXCITABILITY; NEUROLOGIC DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; WILD TYPE;

ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; DNA PRIMERS; EPILEPSIES, MYOCLONIC; FEMALE; GENES, LETHAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MICE; MICE, KNOCKOUT; MICE, MUTANT STRAINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES; SODIUM CHANNELS;

MAMMALIA; MUS;

EID: 35848965669     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm248     Document Type: Article

References (39)

1. Catterall, W.A. (2000) From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels. Neuron, 26, 13-25.
2. Goldin, A.L. (1999) Diversity of mammalian voltage-gated sodium channels. Ann. NY Acad. Sci., 868, 38-50.
3. Westenbroek, R.E., Merrick, D.K. and Catterall, W.A. (1989) Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons. Neuron, 3, 695-704.
4. Beckh, S., Noda, M., Lubbert, H. and Numa, S. (1989) Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development. EMBO J., 8, 3611-3616.
5. Tzoumaka, E., Tischler, A.C., Sangameswaran, L., Eglen, R.M., Hunter, J.C. and Novakovic, S.D. (2000) Differential distribution of the tetrodotoxin-sensitive rPN4/NaCh6/Scn8a sodium channel in the nervous system. J. Neurosci. Res., 60, 37-44.
6. Sugawara, T., Tsurubuchi, Y., Agarwala, K.L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K. et al. (2001) A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. USA, 98, 6384-6389.
7. Escayg, A., MacDonald, B.T., Meisler, M.H, Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuem, E., Moulard, B., Chaigne, D. et al. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nat. Genet., 24, 343-345.
8. Heron, S.E., Crossland, K.M., Andermann, E., Phillips, H.A., Hall, A.J., Bleasel, A., Shevell, M., Mercho, S., Seni, M.H., Guiot, M.C. et al. (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet, 360, 851-852.
9. Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C. and De Jonghe, P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327-1332.
10. Ohmori, I., Kahlig, K.M., Rhodes, T. H., Wang, D.W. and George, A.L., Jr (2006) Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia, 47, 1636-1642.
11. Singh, R., Andermann, E., Whitehouse, W.P., Harvey, A.S., Keene, D.L., Seni, M.H., Crossland, K.M., Andermann, F., Berkovic, S.F. and Scheffer, I.E. (2001) Severe myoclonic epilepsy of infancy: Extended spectrum of GEFS+? Epilepsia, 42, 837-844.
12. Meisler, M.H. and Kearney, J.A. (2005) Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Invest., 115, 2010-2017.
13. Yu, F.H., Mantegazza, M., Westenbroek, R.E., Robbins, C.A., Kalume, F., Burton, K.A., Spain, W.J., McKnight, G.S., Scheuer, T. and Catterall, W.A. (2006) Reduced sodium current in GABAergic intemeurons in a mouse model of severe myoclonic epilepsy in infancy. Nat. Neurosci., 9, 1142-1149.
14. Kalume, F., Yu, F.H., Catterall, W.A. and Scheuer, T. (2005) Na current in Purkinje neurons from Nav1.1 (-/-) mice: Implications for resurgent current and ataxia. Society for Neuroscience Conference, Washington D.C.
15. Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K. et al. (2007) Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J. Neurosci., 27, 5903-5914.
16. Trudeau, M.M., Dalton, J.C., Day, J.W., Ranum, L.P. and Meisler, M.H. (2006) Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J. Med. Genet., 43, 527-530.
17. Sidman, R.L., Cowen, J. S. and Eicher, E.M. (1979) Inherited muscle and nerve diseases in mice: A tabulation with commentary. Ann. NY Acad. Sci., 317, 497-505.
18. Dick, D.J., Boakes, R.J., Candy, J.M., Harris, J.B. and Cullen, M.J. (1986) Cerebellar structure and function in the murine mutant 'jolting'. J. Neurol. Sci., 76, 255-267.
19. Kohrman, D.C., Smith, M.R., Goldin, A.L., Harris, J. and Meisler, M.H. (1996) A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci., 16, 5993-5999.
20. Duchen, L.W. (1970) Hereditary motor end-plate disease in the mouse: light and electron microscopic studies. J. Neurol. Neurosurg. Psychiatry, 33, 238-250.
21. Kohrman, D.C., Harris, J.B. and Meisler, M.H. (1996) Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. J. Biol. Chem., 271 17576-17581.
22. Kohrman, D.C., Plummer, N.W., Schuster, T., Jones, J.M., Jang, W., Burgess, D.L., Galt, J., Spear, B.T. and Meisler, M.H. (1995) Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics, 26, 171-177.
23. Burgess, D.L., Kohrman, D.C., Galt, J., Plummer, N.W., Jones, J.M., Spear, B. and Meisler, M.H. (1995) Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nat. Genet., 10, 461-465.
24. Woodruff-Pak, D.S., Green, J.T., Levin, S.I. and Meisler, M.H. (2006) Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning. Behav. Neurosci., 120, 229-240.
25. Hashimoto, Y., Araki, H., Suemaru, K. and Gomita, Y. (2006) Effects of drugs acting on the GABA-benzodiazepine receptor complex on flurothyl-induced seizures in Mongolian gerbils. Eur. J. Pharmacol. 536, 241-247.
26. Racine, R.J. (1972) Modification of seizure activity by electrical stimulation. II. Motor seizure. Electroencephalogr. Clin. Neurophysiol., 32, 281-294.
27. Heydemann, A., Doherty, K.R. and McNally, E.M. (2007) Genetic modifiers of muscular dystrophy: Implications for therapy. Biochim. Biophys. Acta, 1772, 216-228.
28. Smith, J.D. and Topol, E.J. (2006) Identification of atherosclerosis-modifying genes: Pathogenic insights and therapeutic potential. Expert Rev. Cardiovasc. Ther., 4, 703-709.
29. Steinberg, M.H. and Adewoye, A.H. (2006) Modifier genes and sickle cell anemia. Curr. Opin. Hematol., 13, 131-136.
30. Bergren, S.K., Chen, S., Galecki, A. and Kearney, J.A. (2005) Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a. Mamm. Genome, 16, 683-690.
31. Sprunger, L.K., Escayg, A., Tallaksen-Greene, S., Albin, R.L. and Meisler, M.H. (1999) Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum. Mol. Genet., 8, 471-479.
32. Buchner, D.A., Trudeau, M. and Meisler, M.H. (2003) SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-969.
33. Kearney, J.A., Yang, Y., Beyer, B., Bergren, SK, Claes, L., Dejonghe, P. and Frankel, W.N. (2006) Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum. Mol. Genet., 15, 1043-1048.
34. Levin, S.I., Khaliq, Z.M., Aman, T.K., Grieco, T.M., Kearney, J.A., Raman, I.M. and Meisler, M.H. (2006) Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. J. Neurophysiol., 96, 785-793.
35. Levin, S.I. and Meisler, M.H. (2004) Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). Genesis, 39, 234-239.
36. Harris, J.B., Boakes, R.J. and Court, J.A. (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.
37. Raman, I.M., Spiunger, L.K., Meisler, M.H. and Bean, B.P. (1997) Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice. Neuron, 19, 881-891.
38. Maurice, N., Tkatch, T., Meisler, M., Sprunger, L.K. and Surmeier, D.J. (2001) D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J. Neurosci., 21, 2268-2277.
39. Van Wart, A. and Matthews, G. (2006) Impaired firing and cell-specific compensation in neurons lacking nav1.6 sodium channels. J. Neurosci. 26, 7172-7180.