메뉴 건너뛰기




Volumn 58, Issue 1, 2008, Pages 149-159

How do mutant Nav1.1 sodium channels cause epilepsy?

Author keywords

Channelopathy; Epilepsy; GEFS+; SMEI; Voltage gated sodium channel

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; VOLTAGE GATED SODIUM CHANNEL;

EID: 45649085478     PISSN: 01650173     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainresrev.2008.01.003     Document Type: Review
Times cited : (78)

References (110)
  • 2
    • 0034671216 scopus 로고    scopus 로고
    • A sodium channel mutation causing epilepsy in man exhibits subtle effects in fast inactivation and activation in vitro
    • Alekov A., Rahman M.M., Mitrovic N., Lehmann-Horn F., and Lerche H. A sodium channel mutation causing epilepsy in man exhibits subtle effects in fast inactivation and activation in vitro. J. Physiol. 529 (2000) 53353-53359
    • (2000) J. Physiol. , vol.529 , pp. 53353-53359
    • Alekov, A.1    Rahman, M.M.2    Mitrovic, N.3    Lehmann-Horn, F.4    Lerche, H.5
  • 3
    • 0034954467 scopus 로고    scopus 로고
    • Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man
    • Alekov A., A.K., Rahman M.M., Mitrovic N., Lehmann-Horn F., and Lerche H. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J. Neurosci. 13 (2001) 2171-2176
    • (2001) Eur. J. Neurosci. , vol.13 , pp. 2171-2176
    • Alekov, A.A.K.1    Rahman, M.M.2    Mitrovic, N.3    Lehmann-Horn, F.4    Lerche, H.5
  • 9
    • 33748372269 scopus 로고    scopus 로고
    • Pathomechanisms in channelopathies of skeletal muscle and brain
    • Cannon S.C. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu. Rev. Neurosci. 29 (2006) 387-415
    • (2006) Annu. Rev. Neurosci. , vol.29 , pp. 387-415
    • Cannon, S.C.1
  • 10
    • 0033694833 scopus 로고    scopus 로고
    • From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels
    • Catterall W.A. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron. 26 (2000) 13-25
    • (2000) Neuron. , vol.26 , pp. 13-25
    • Catterall, W.A.1
  • 11
    • 1842850796 scopus 로고    scopus 로고
    • Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy
    • Ceulemans B.P., Claes L.R., and Lagae L.G. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr. Neurol. 30 (2004) 236-243
    • (2004) Pediatr. Neurol. , vol.30 , pp. 236-243
    • Ceulemans, B.P.1    Claes, L.R.2    Lagae, L.G.3
  • 14
    • 12244289247 scopus 로고    scopus 로고
    • Functional characterization of the D188V mutation in the neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)
    • Cossette P., Loukas A., Lafrenière R.G., Rochefort D., Harvey Girard E., Ragsdale D.S., Dunn R.J., and Rouleau G.A. Functional characterization of the D188V mutation in the neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res. 53 (2003) 107-117
    • (2003) Epilepsy Res. , vol.53 , pp. 107-117
    • Cossette, P.1    Loukas, A.2    Lafrenière, R.G.3    Rochefort, D.4    Harvey Girard, E.5    Ragsdale, D.S.6    Dunn, R.J.7    Rouleau, G.A.8
  • 15
    • 0034523226 scopus 로고    scopus 로고
    • Cloning, distribution and functional analysis of the type III sodium channel from human brain
    • Chen Y.H., Dale T.J., Romanos M.A., Whitaker W.R., Xie X.M., and Clare J.J. Cloning, distribution and functional analysis of the type III sodium channel from human brain. Eur. J. Neurosci. 12 (2000) 4281-4289
    • (2000) Eur. J. Neurosci. , vol.12 , pp. 4281-4289
    • Chen, Y.H.1    Dale, T.J.2    Romanos, M.A.3    Whitaker, W.R.4    Xie, X.M.5    Clare, J.J.6
  • 17
    • 0035882277 scopus 로고    scopus 로고
    • Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons
    • Cummins T.R., Aglieco F., Renganathan M., Herzog R.I., Dib-Hajj D.S., and Waxman S.G. Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons. J. Neurosci. 21 (2001) 5952-5961
    • (2001) J. Neurosci. , vol.21 , pp. 5952-5961
    • Cummins, T.R.1    Aglieco, F.2    Renganathan, M.3    Herzog, R.I.4    Dib-Hajj, D.S.5    Waxman, S.G.6
  • 18
    • 4444241942 scopus 로고    scopus 로고
    • The role of glial membrane ion channels in seizures and epileptogenesis
    • D'Ambrosio R. The role of glial membrane ion channels in seizures and epileptogenesis. Pharmacol. Ther. 103 (2004) 95-108
    • (2004) Pharmacol. Ther. , vol.103 , pp. 95-108
    • D'Ambrosio, R.1
  • 21
    • 34548857362 scopus 로고    scopus 로고
    • Novel de novo mutation of a conserved SCN1A amino acid residue (R1596)
    • Dlugos D.J., Ferraro T.N., and Buono R.J. Novel de novo mutation of a conserved SCN1A amino acid residue (R1596). Pediatr. Neurol. 37 (2007) 303-305
    • (2007) Pediatr. Neurol. , vol.37 , pp. 303-305
    • Dlugos, D.J.1    Ferraro, T.N.2    Buono, R.J.3
  • 25
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy
    • Escayg A., Heils A., MacDonald B.T., Haug K., Sanders T., and Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68 (2001) 866-873
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 866-873
    • Escayg, A.1    Heils, A.2    MacDonald, B.T.3    Haug, K.4    Sanders, T.5    Meisler, M.H.6
  • 28
    • 27844480081 scopus 로고    scopus 로고
    • A receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the a1 subunit
    • A receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the a1 subunit. J Biol. Chem. 280 (2005) 37995-38004
    • (2005) J Biol. Chem. , vol.280 , pp. 37995-38004
    • Gallagher, M.J.1    Shen, W.2    Song, L.3    Macdonald, R.L.4
  • 29
    • 34548717515 scopus 로고    scopus 로고
    • A receptor a1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation
    • A receptor a1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 12999-13004
    • (2007) Proc. Natl. Acad. Sci. U.S.A. , vol.104 , pp. 12999-13004
    • Gallagher, M.J.1    Ding, L.2    Maheshwari, A.3    Macdonald, R.L.4
  • 31
    • 23644433670 scopus 로고    scopus 로고
    • Inherited disorders of voltage-gated sodium channels
    • George Jr. A.L. Inherited disorders of voltage-gated sodium channels. J. Clin. Invest. 115 (2005) 1990-1999
    • (2005) J. Clin. Invest. , vol.115 , pp. 1990-1999
    • George Jr., A.L.1
  • 33
    • 0033588810 scopus 로고    scopus 로고
    • Type I and type II Na+ channel alpha subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain
    • Gong B., Rhodes K.J., Bekele-Arcuri Z., and Trimmer J.S. Type I and type II Na+ channel alpha subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J. Comp. Neurol. 412 (1999) 342-352
    • (1999) J. Comp. Neurol. , vol.412 , pp. 342-352
    • Gong, B.1    Rhodes, K.J.2    Bekele-Arcuri, Z.3    Trimmer, J.S.4
  • 38
    • 0033360405 scopus 로고    scopus 로고
    • Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain
    • Hartmann H.J., Colom L.V., Sutherland M.L., and Noebels J.L. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat. Neurosci. 2 (1999) 593-595
    • (1999) Nat. Neurosci. , vol.2 , pp. 593-595
    • Hartmann, H.J.1    Colom, L.V.2    Sutherland, M.L.3    Noebels, J.L.4
  • 40
    • 33750599989 scopus 로고    scopus 로고
    • A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules
    • Hirose S. A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. Epilepsy Res. 70 suppl. 1 (2006) S206-S217
    • (2006) Epilepsy Res. , vol.70 , Issue.SUPPL. 1
    • Hirose, S.1
  • 41
    • 0035139342 scopus 로고    scopus 로고
    • Sodium channel beta subunits: anything but auxiliary
    • Isom L.L. Sodium channel beta subunits: anything but auxiliary. Neuroscientist 7 (2001) 42-54
    • (2001) Neuroscientist , vol.7 , pp. 42-54
    • Isom, L.L.1
  • 43
    • 0028972374 scopus 로고
    • Structure and function of the beta2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif
    • Isom L.L., Ragsdale D.S., DeJong K.S., Westenbroek R.E., Reber B.F., Scheuer T., and Catterall W.A. Structure and function of the beta2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif. Cell 83 (1995) 433-442
    • (1995) Cell , vol.83 , pp. 433-442
    • Isom, L.L.1    Ragsdale, D.S.2    DeJong, K.S.3    Westenbroek, R.E.4    Reber, B.F.5    Scheuer, T.6    Catterall, W.A.7
  • 46
    • 33645642871 scopus 로고    scopus 로고
    • A receptor g2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies
    • A receptor g2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. J. Neurosci. 26 (2006) 2590-2597
    • (2006) J. Neurosci. , vol.26 , pp. 2590-2597
    • Kang, J.-Q.1    Shen, W.2    Macdonald, R.L.3
  • 47
    • 35348904490 scopus 로고    scopus 로고
    • Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy
    • Kalume F., Yu F.H., Westenbroek R.E., Scheuer T., and Catterall W.A. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J. Neurosci. 27 (2007) 11065-11074
    • (2007) J. Neurosci. , vol.27 , pp. 11065-11074
    • Kalume, F.1    Yu, F.H.2    Westenbroek, R.E.3    Scheuer, T.4    Catterall, W.A.5
  • 48
  • 53
    • 0030826759 scopus 로고    scopus 로고
    • Persistent sodium currents through brain sodium channels induced by G protein bg subunits
    • Ma J.Y., Catterall W.A., and Scheuer T. Persistent sodium currents through brain sodium channels induced by G protein bg subunits. Neuron. 19 (1997) 443-452
    • (1997) Neuron. , vol.19 , pp. 443-452
    • Ma, J.Y.1    Catterall, W.A.2    Scheuer, T.3
  • 56
    • 16344365831 scopus 로고    scopus 로고
    • Molecular determinants for modulation of persistent sodium current by G-protein bg subunits
    • Mantegazza M., Yu F.H., Powell A.J., Clare J.J., Catterall W.A., and Scheuer T. Molecular determinants for modulation of persistent sodium current by G-protein bg subunits. J. Neurosci. 25 (2005) 3341-3349
    • (2005) J. Neurosci. , vol.25 , pp. 3341-3349
    • Mantegazza, M.1    Yu, F.H.2    Powell, A.J.3    Clare, J.J.4    Catterall, W.A.5    Scheuer, T.6
  • 59
    • 33750584471 scopus 로고    scopus 로고
    • Molecular signaling mechanisms underlying epileptogenesis
    • McNamara J.O., Huang Y.Z., and Leonard A.S. Molecular signaling mechanisms underlying epileptogenesis. Sci. STKE 356 (2006) re12
    • (2006) Sci. STKE , vol.356
    • McNamara, J.O.1    Huang, Y.Z.2    Leonard, A.S.3
  • 60
    • 0037115031 scopus 로고    scopus 로고
    • Functional and biochemical analysis of the sodium channel b1 subunit mutation responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1
    • Meadows L.S., Malhotra J., Loukas A., Thyagarajan V., Kazen-Gillespie A., Koopman M.C., Kriegler S., Isom L.L., and Ragsdale D.S. Functional and biochemical analysis of the sodium channel b1 subunit mutation responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1. J. Neurosci. 22 (2002) 10699-10709
    • (2002) J. Neurosci. , vol.22 , pp. 10699-10709
    • Meadows, L.S.1    Malhotra, J.2    Loukas, A.3    Thyagarajan, V.4    Kazen-Gillespie, A.5    Koopman, M.C.6    Kriegler, S.7    Isom, L.L.8    Ragsdale, D.S.9
  • 65
    • 17044381807 scopus 로고    scopus 로고
    • A family of generalized epilepsy with febrile seizures plus type 2 - a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures
    • Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., and Igarashi T. A family of generalized epilepsy with febrile seizures plus type 2 - a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. Epilepsy Res. 63 (2005) 151-156
    • (2005) Epilepsy Res. , vol.63 , pp. 151-156
    • Nagao, Y.1    Mazaki-Miyazaki, E.2    Okamura, N.3    Takagi, M.4    Igarashi, T.5
  • 67
    • 0036304363 scopus 로고    scopus 로고
    • Significant correlation of the SCN1A mutations and severe myoclonic epilepsy of infancy
    • Ohmori I., Ouchida M., Ohtsuka Y., Oka E., and Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy of infancy. Biochem. Biophys. Res. Commun. 295 (2002) 17-23
    • (2002) Biochem. Biophys. Res. Commun. , vol.295 , pp. 17-23
    • Ohmori, I.1    Ouchida, M.2    Ohtsuka, Y.3    Oka, E.4    Shimizu, K.5
  • 68
    • 33749665782 scopus 로고    scopus 로고
    • Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy
    • Ohmori I., Kahlig K.M., Rhodes T.H., Wang D.W., and George Jr. A.L. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia, 47 (2006) 1636-1642
    • (2006) Epilepsia , vol.47 , pp. 1636-1642
    • Ohmori, I.1    Kahlig, K.M.2    Rhodes, T.H.3    Wang, D.W.4    George Jr., A.L.5
  • 69
    • 0028242712 scopus 로고
    • The adult brain beta1 subunit modifies activation and inactivation gating of multiple sodium channel alpha subunits
    • Patton D.E., Isom L.L., Catterall W.A., and Goldin A.L. The adult brain beta1 subunit modifies activation and inactivation gating of multiple sodium channel alpha subunits. J. Biol. Chem. 269 (1994) 17649-17655
    • (1994) J. Biol. Chem. , vol.269 , pp. 17649-17655
    • Patton, D.E.1    Isom, L.L.2    Catterall, W.A.3    Goldin, A.L.4
  • 72
    • 0031966045 scopus 로고    scopus 로고
    • Sodium channels as molecular targets for antiepileptic drugs
    • Ragsdale D.S., and Avoli M. Sodium channels as molecular targets for antiepileptic drugs. Brain Res. Rev. 26 (1998) 16-28
    • (1998) Brain Res. Rev. , vol.26 , pp. 16-28
    • Ragsdale, D.S.1    Avoli, M.2
  • 74
    • 29244448307 scopus 로고    scopus 로고
    • Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures
    • Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K., and George Jr. A.L. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J. Physiol. 569 (2005) 433-445
    • (2005) J. Physiol. , vol.569 , pp. 433-445
    • Rhodes, T.H.1    Vanoye, C.G.2    Ohmori, I.3    Ogiwara, I.4    Yamakawa, K.5    George Jr., A.L.6
  • 75
    • 0141615605 scopus 로고    scopus 로고
    • The phenotypic consequences of CFTR mutations
    • Rountree R.K., and Harris A. The phenotypic consequences of CFTR mutations. Ann. Hum. Genet. 67 (2003) 471-485
    • (2003) Ann. Hum. Genet. , vol.67 , pp. 471-485
    • Rountree, R.K.1    Harris, A.2
  • 77
    • 33846974357 scopus 로고    scopus 로고
    • Multiple sodium channel subtypes and their roles in electrogenesis within dorsal root ganglion neurons
    • Rush A.M., Cummins T.R., and Waxman S.G. Multiple sodium channel subtypes and their roles in electrogenesis within dorsal root ganglion neurons. J. Physiol. 579 (2007) 1-14
    • (2007) J. Physiol. , vol.579 , pp. 1-14
    • Rush, A.M.1    Cummins, T.R.2    Waxman, S.G.3
  • 78
    • 8744241623 scopus 로고    scopus 로고
    • A receptor mutation linked to human epilepsy (g2R43Q) impairs cell surface expression of abg receptors
    • A receptor mutation linked to human epilepsy (g2R43Q) impairs cell surface expression of abg receptors. J. Biol. Chem. 279 (2004) 47034-47039
    • (2004) J. Biol. Chem. , vol.279 , pp. 47034-47039
    • Sancar, F.1    Czajkowski, C.2
  • 80
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer I.E., and Berkovic S.F. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120 (1997) 479-490
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 82
    • 33644519960 scopus 로고    scopus 로고
    • Astrocyte dysfunction in neurological disorders: a molecular perspective
    • Seifert G., Schilling K., and Steinhäuser C. Astrocyte dysfunction in neurological disorders: a molecular perspective. Nat. Rev. Neurosci. 7 (2006) 194-206
    • (2006) Nat. Rev. Neurosci. , vol.7 , pp. 194-206
    • Seifert, G.1    Schilling, K.2    Steinhäuser, C.3
  • 85
    • 0035478007 scopus 로고    scopus 로고
    • Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
    • Spampanato J., Escayg A., Meisler M.H., and Goldin A.L. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J. Neurosci. 21 (2001) 7481-7490
    • (2001) J. Neurosci. , vol.21 , pp. 7481-7490
    • Spampanato, J.1    Escayg, A.2    Meisler, M.H.3    Goldin, A.L.4
  • 88
    • 0037025262 scopus 로고    scopus 로고
    • Glial membrane channels and receptors in epilepsy: impact for generation and spread of seizure activity
    • Steinhäuser Seifert G. Glial membrane channels and receptors in epilepsy: impact for generation and spread of seizure activity. Eur. J. Pharmacol. 447 (2002) 227-237
    • (2002) Eur. J. Pharmacol. , vol.447 , pp. 227-237
    • Steinhäuser Seifert, G.1
  • 89
    • 33845249479 scopus 로고    scopus 로고
    • Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report
    • Stefanaki E., Aggelakou V., Orfanou M., Kokori E., and Boutoufianakis S. Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. Acta Paediatr. 95 (2006) 1703-1706
    • (2006) Acta Paediatr. , vol.95 , pp. 1703-1706
    • Stefanaki, E.1    Aggelakou, V.2    Orfanou, M.3    Kokori, E.4    Boutoufianakis, S.5
  • 95
    • 2342527262 scopus 로고    scopus 로고
    • Localization of voltage-gated ion channels in mammalian brain
    • Trimmer J.S., and Rhodes K.J. Localization of voltage-gated ion channels in mammalian brain. Annu. Rev. Physiol. 66 (2004) 477-519
    • (2004) Annu. Rev. Physiol. , vol.66 , pp. 477-519
    • Trimmer, J.S.1    Rhodes, K.J.2
  • 97
    • 29844445037 scopus 로고    scopus 로고
    • Single channel properties of human Nav1.1 and mechanisms of channel dysfunction in SCN1A-associated epilepsy
    • Vanoye C.G., Lossin C., Rhodes T.H., and George Jr. A.L. Single channel properties of human Nav1.1 and mechanisms of channel dysfunction in SCN1A-associated epilepsy. J. Gen. Physiol. 127 (2006) 1-14
    • (2006) J. Gen. Physiol. , vol.127 , pp. 1-14
    • Vanoye, C.G.1    Lossin, C.2    Rhodes, T.H.3    George Jr., A.L.4
  • 104
    • 34548426549 scopus 로고    scopus 로고
    • Nav1.7, its mutations, and the syndromes they cause
    • Waxman S.G. Nav1.7, its mutations, and the syndromes they cause. Neurology 69 (2007) 505-507
    • (2007) Neurology , vol.69 , pp. 505-507
    • Waxman, S.G.1
  • 107
    • 0026763362 scopus 로고
    • Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain
    • Westenbroek R.E., Noebels J.L., and Catterall W.A. Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain. J. Neurosci. 12 (1992) 2259-2267
    • (1992) J. Neurosci. , vol.12 , pp. 2259-2267
    • Westenbroek, R.E.1    Noebels, J.L.2    Catterall, W.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.