메뉴 건너뛰기




Volumn 109, Issue 36, 2012, Pages 14646-14651

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; SODIUM CHANNEL NAV1.1; SCN1A PROTEIN, MOUSE;

EID: 84871686984     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1211591109     Document Type: Article
Times cited : (240)

References (30)
  • 1
    • 0033694833 scopus 로고    scopus 로고
    • From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
    • Catterall WA (2000) From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels. Neuron 26:13–25.
    • (2000) Neuron , vol.26 , pp. 13-25
    • Catterall, W.A.1
  • 2
    • 0035139342 scopus 로고    scopus 로고
    • Sodium channel beta subunits: Anything but auxiliary
    • Isom LL (2001) Sodium channel beta subunits: Anything but auxiliary. Neuroscientist 7:42–54.
    • (2001) Neuroscientist , vol.7 , pp. 42-54
    • Isom, L.L.1
  • 4
    • 0033588810 scopus 로고    scopus 로고
    • + channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain
    • + channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J Comp Neurol 412:342–352.
    • (1999) J Comp Neurol , vol.412 , pp. 342-352
    • Gong, B.1    Rhodes, K.J.2    Bekele-Arcuri, Z.3    Trimmer, J.S.4
  • 5
    • 15244344363 scopus 로고    scopus 로고
    • The vgl-chanome: A protein superfamily specialized for electrical signaling and ionic homeostasis
    • Yu FH, Catterall WA (2004) The VGL-chanome: A protein superfamily specialized for electrical signaling and ionic homeostasis. Sci STKE 2004:re15.
    • (2004) Sci STKE , vol.2004 , pp. re15
    • Yu, F.H.1    Catterall, W.A.2
  • 6
    • 2342527262 scopus 로고    scopus 로고
    • Localization of voltage-gated ion channels in mammalian brain
    • Trimmer JS, Rhodes KJ (2004) Localization of voltage-gated ion channels in mammalian brain. Annu Rev Physiol 66:477–519.
    • (2004) Annu Rev Physiol , vol.66 , pp. 477-519
    • Trimmer, J.S.1    Rhodes, K.J.2
  • 7
    • 58149326824 scopus 로고    scopus 로고
    • Inherited neuronal ion chan-nelopathies: New windows on complex neurological diseases
    • Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D (2008) Inherited neuronal ion chan-nelopathies: New windows on complex neurological diseases. J Neurosci 28:11768–11777.
    • (2008) J Neurosci , vol.28 , pp. 11768-11777
    • Catterall, W.A.1    Dib-Hajj, S.2    Meisler, M.H.3    Pietrobon, D.4
  • 9
    • 77954514571 scopus 로고    scopus 로고
    • Sodium channel gene family: Epilepsy mutations, gene interactions and modifier effects
    • Meisler MH, O’Brien JE, Sharkey LM (2010) Sodium channel gene family: Epilepsy mutations, gene interactions and modifier effects. J Physiol 588:1841–1848.
    • (2010) J Physiol , vol.588 , pp. 1841-1848
    • Meisler, M.H.1    O’Brien, J.E.2    Sharkey, L.M.3
  • 10
    • 0034987073 scopus 로고    scopus 로고
    • De novo mutations in the sodium-channel gene scn1a cause severe myoclonic epilepsy of infancy
    • Claes L, et al. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327–1332.
    • (2001) Am J Hum Genet , vol.68 , pp. 1327-1332
    • Claes, L.1
  • 11
    • 0038771150 scopus 로고    scopus 로고
    • Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
    • Sugawara T, et al. (2003) Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 54:201–207.
    • (2003) Epilepsy Res , vol.54 , pp. 201-207
    • Sugawara, T.1
  • 12
    • 84855417355 scopus 로고    scopus 로고
    • Pure haploinsufficiency for dravet syndrome na(v)1.1 (scn1a) sodium channel truncating mutations
    • Bechi G, et al. (2012) Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. Epilepsia 53:87–100.
    • (2012) Epilepsia , vol.53 , pp. 87-100
    • Bechi, G.1
  • 13
    • 79953726784 scopus 로고    scopus 로고
    • The core dravet syndrome phenotype
    • Dravet C (2011) The core Dravet syndrome phenotype. Epilepsia 52(Suppl 2):3–9.
    • (2011) Epilepsia , vol.52 , pp. 3-9
    • Dravet, C.1
  • 14
    • 33748115786 scopus 로고    scopus 로고
    • Reduced sodium current in gabaergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
    • Yu FH, et al. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9:1142–1149.
    • (2006) Nat Neurosci , vol.9 , pp. 1142-1149
    • Yu, F.H.1
  • 15
    • 62649142705 scopus 로고    scopus 로고
    • Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
    • Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA (2009) Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc Natl Acad Sci USA 106:3994–3999.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 3994-3999
    • Oakley, J.C.1    Kalume, F.2    Yu, F.H.3    Scheuer, T.4    Catterall, W.A.5
  • 16
    • 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 FH, Westenbroek RE, Scheuer T, Catterall WA (2007) Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: Implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci 27:11065–11074.
    • (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
  • 17
    • 34249791771 scopus 로고    scopus 로고
    • Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an scn1a gene mutation
    • Ogiwara I, et al. (2007) Nav1.1 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.
    • (2007) J Neurosci , vol.27 , pp. 5903-5914
    • Ogiwara, I.1
  • 18
    • 84879800583 scopus 로고    scopus 로고
    • Reduced excitability of gabaergic interneurons in the reticular nucleus of the thalamus and sleep impairment in a mouse model of severe myoclonic epilepsy of infancy
    • Kalume F, Oakley JC, Westenbroek RE, Scheuer T, Catterall WA (2010) Reduced excitability of GABAergic interneurons in the reticular nucleus of the thalamus and sleep impairment in a mouse model of Severe Myoclonic Epilepsy of Infancy. Soc Neurosci Abs 255:15.
    • (2010) Soc Neurosci Abs , vol.255 , pp. 15
    • Kalume, F.1    Oakley, J.C.2    Westenbroek, R.E.3    Scheuer, T.4    Catterall, W.A.5
  • 19
    • 84879793274 scopus 로고    scopus 로고
    • Effect of deletion of nav1.1 channels on sodium current in dissociated neocortical interneurons in a mouse model of severe myoclonic epilepsy in infancy
    • Abe Y, Kalume F, Westenbroek RE, Scheuer T, Catterall WA (2010) Effect of deletion of Nav1.1 channels on sodium current in dissociated neocortical interneurons in a mouse model of severe myoclonic epilepsy in infancy. Soc Neurosci Abs 254:5.
    • (2010) Soc Neurosci Abs , vol.254 , pp. 5
    • Abe, Y.1    Kalume, F.2    Westenbroek, R.E.3    Scheuer, T.4    Catterall, W.A.5
  • 20
    • 33747614577 scopus 로고    scopus 로고
    • The origin and specification of cortical interneurons
    • Wonders CP, Anderson SA (2006) The origin and specification of cortical interneurons. Nat Rev Neurosci 7:687–696.
    • (2006) Nat Rev Neurosci , vol.7 , pp. 687-696
    • Wonders, C.P.1    Anderson, S.A.2
  • 21
    • 59049084200 scopus 로고    scopus 로고
    • Dlx1&2 and mash1 transcription factors control striatal patterning and differentiation through parallel and overlapping pathways
    • Long JE, et al. (2009) Dlx1&2 and Mash1 transcription factors control striatal patterning and differentiation through parallel and overlapping pathways. J Comp Neurol 512:556–572.
    • (2009) J Comp Neurol , vol.512 , pp. 556-572
    • Long, J.E.1
  • 22
    • 23044437148 scopus 로고    scopus 로고
    • Mice lacking dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy
    • Cobos I, et al. (2005) Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nat Neurosci 8:1059–1068.
    • (2005) Nat Neurosci , vol.8 , pp. 1059-1068
    • Cobos, I.1
  • 23
    • 59049084993 scopus 로고    scopus 로고
    • Generation of cre-transgenic mice using dlx1/dlx2 enhancers and their characterization in gabaergic interneurons
    • Potter GB, et al. (2009) Generation of Cre-transgenic mice using Dlx1/Dlx2 enhancers and their characterization in GABAergic interneurons. Mol Cell Neurosci 40:167–186.
    • (2009) Mol Cell Neurosci , vol.40 , pp. 167-186
    • Potter, G.B.1
  • 24
    • 0015309163 scopus 로고
    • Modification of seizure activity by electrical stimulation. II. Motor seizure
    • Racine RJ (1972) Modification of seizure activity by electrical stimulation. II. Motor seizure. Electroencephalogr Clin Neurophysiol 32:281–294.
    • (1972) Electroencephalogr Clin Neurophysiol , vol.32 , pp. 281-294
    • Racine, R.J.1
  • 25
    • 0034778243 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infants — A review based on the tokyo women’s medical university series of 84 cases
    • Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M (2001) Severe myoclonic epilepsy in infants — a review based on the Tokyo Women’s Medical University series of 84 cases. Brain Dev 23:736–748.
    • (2001) Brain Dev , vol.23 , pp. 736-748
    • Oguni, H.1    Hayashi, K.2    Awaya, Y.3    Fukuyama, Y.4    Osawa, M.5
  • 26
    • 0037452985 scopus 로고    scopus 로고
    • An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node
    • Maier SKG, et al. (2003) An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci USA 100: 3507–3512.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 3507-3512
    • Maier, S.K.G.1
  • 27
    • 79953725454 scopus 로고    scopus 로고
    • Mortality in dravet syndrome: Search for risk factors in japanese patients
    • Sakauchi M, et al. (2011) Mortality in Dravet syndrome: Search for risk factors in Japanese patients. Epilepsia 52(Suppl 2):50–54.
    • (2011) Epilepsia , vol.52 , pp. 50-54
    • Sakauchi, M.1
  • 28
    • 79953698195 scopus 로고    scopus 로고
    • Dravet syndrome: The long-term outcome
    • Genton P, Velizarova R, Dravet C (2011) Dravet syndrome: The long-term outcome. Epilepsia 52(Suppl 2):44–49.
    • (2011) Epilepsia , vol.52 , pp. 44-49
    • Genton, P.1    Velizarova, R.2    Dravet, C.3
  • 29
    • 0037133689 scopus 로고    scopus 로고
    • An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart
    • Maier SKG, et al. (2002) An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart. Proc Natl Acad Sci USA 99:4073–4078.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 4073-4078
    • Maier, S.K.G.1
  • 30
    • 0032528631 scopus 로고    scopus 로고
    • Localization of ca2+ channel subtypes on rat spinal motor neurons, interneurons, and nerve terminals
    • Westenbroek RE, Hoskins L, Catterall WA (1998) Localization of Ca2+ channel subtypes on rat spinal motor neurons, interneurons, and nerve terminals. J Neurosci 18: 6319–6330.
    • (1998) J Neurosci , vol.18 , pp. 6319-6330
    • Westenbroek, R.E.1    Hoskins, L.2    Catterall, W.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.