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Volumn 489, Issue 7416, 2012, Pages 385-390

Autistic-like behaviour in Scn1a +- mice and rescue by enhanced GABA-mediated neurotransmission

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; CLONAZEPAM; SODIUM CHANNEL NAV1.1;

EID: 84866500624     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature11356     Document Type: Article
Times cited : (503)

References (44)
  • 1
    • 33750576365 scopus 로고    scopus 로고
    • Severemyoclonic epilepsy of infants (Dravet Syndrome) : Natural history and neuropsychological findings
    • Wolff, M., Casse-Perrot, C. & Dravet, C. Severemyoclonic epilepsy of infants (Dravet syndrome) : natural history and neuropsychological findings. Epilepsia 47 (Suppl. 2), 45-48 (2006).
    • (2006) Epilepsia , vol.47 , Issue.SUPPL. 2 , pp. 45-48
    • Wolff, M.1    Casse-Perrot, C.2    Dravet, C.3
  • 2
    • 79953698195 scopus 로고    scopus 로고
    • Dravet syndrome: The long-term outcome
    • Genton, P., Velizarova, R. & Dravet, C. Dravet syndrome: the long-term outcome. Epilepsia 52 (Suppl 2), 44-49 (2011).
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 44-49
    • Genton, P.1    Velizarova, R.2    Dravet, C.3
  • 3
    • 79959602137 scopus 로고    scopus 로고
    • Autismin Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation
    • Li, B. M. et al. Autismin Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. Epilepsy Behav. 21, 291-295 (2011).
    • (2011) Epilepsy Behav. , vol.21 , pp. 291-295
    • Li, B.M.1
  • 4
    • 79960909620 scopus 로고    scopus 로고
    • Comorbidities and predictors of healthrelated quality of life in Dravet syndrome
    • Brunklaus, A., Dorris, L. & Zuberi, S. M. Comorbidities and predictors of healthrelated quality of life in Dravet syndrome. Epilepsia 52, 1476-1482 (2011).
    • (2011) Epilepsia , vol.52 , pp. 1476-1482
    • Brunklaus, A.1    Dorris, L.2    Zuberi, S.M.3
  • 5
    • 1542291791 scopus 로고    scopus 로고
    • Behavioral aspects of pediatric epilepsy syndromes
    • Besag, F. M. Behavioral aspects of pediatric epilepsy syndromes. Epilepsy Behav. 5 (Suppl. 1), 3-13 (2004).
    • (2004) Epilepsy Behav. , vol.5 , Issue.SUPPL. 1 , pp. 3-13
    • Besag, F.M.1
  • 6
    • 68049142992 scopus 로고    scopus 로고
    • Variable neurologic phenotype in a GEFS1 family with a novel mutation in SCN1A
    • Mahoney, K. et al. Variable neurologic phenotype in a GEFS1 family with a novel mutation in SCN1A. Seizure 18, 492-497 (2009).
    • (2009) Seizure , vol.18 , pp. 492-497
    • Mahoney, K.1
  • 7
    • 0034987073 scopus 로고    scopus 로고
    • De novomutations in the sodium-channel gene SCN1Acause severe myoclonic epilepsy of infancy
    • Claes, L. et al. De novomutations in the sodium-channel gene SCN1Acause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327-1332 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1327-1332
    • Claes, L.1
  • 8
    • 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, 13-25 (2000).
    • (2000) Neuron , vol.26 , pp. 13-25
    • Catterall, W.A.1
  • 9
    • 33748115786 scopus 로고    scopus 로고
    • Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
    • Yu, F. H. et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature Neurosci. 9, 1142-1149 (2006).
    • (2006) Nature Neurosci. , vol.9 , pp. 1142-1149
    • Yu, F.H.1
  • 10
    • 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. & 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, 11065-11074 (2007).
    • (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
  • 11
    • 62649142705 scopus 로고    scopus 로고
    • Temperature-and age-dependent seizures in amousemodel of severemyoclonic epilepsy in infancy
    • Oakley, J. C., Kalume, F., Yu, F. H., Scheuer, T. & Catterall, W. A. Temperature-and age-dependent seizures in amousemodel of severemyoclonic epilepsy in infancy. Proc. Natl Acad. Sci. USA 106, 3994-3999 (2009).
    • (2009) Proc. Natl Acad. Sci. USÀ , vol.106 , pp. 3994-3999
    • Oakley, J.C.1    Kalume, F.2    Yu, F.H.3    Scheuer, T.4    Catterall, W.A.5
  • 12
    • 84857133999 scopus 로고    scopus 로고
    • NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms
    • Han, S. et al. NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. Proc. Natl Acad. Sci. USA 109, E368-E377 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109
    • Han, S.1
  • 14
    • 0024797279 scopus 로고
    • Differential subcellular localization of the RI and RII Na1 channel subtypes in central neurons
    • Westenbroek, R. E., Merrick, D. K. & Catterall, W. A. Differential subcellular localization of the RI and RII Na1 channel subtypes in central neurons. Neuron 3, 695-704 (1989).
    • (1989) Neuron , vol.3 , pp. 695-704
    • Westenbroek, R.E.1    Merrick, D.K.2    Catterall, W.A.3
  • 15
    • 33845567864 scopus 로고    scopus 로고
    • Polarized distribution of ion channels within microdomains of the axon initial segment
    • Van Wart, A., Trimmer, J. S. & Matthews, G. Polarized distribution of ion channels within microdomains of the axon initial segment. J. Comp. Neurol. 500, 339-352 (2007).
    • (2007) J. Comp. Neurol. , vol.500 , pp. 339-352
    • Van Wart, A.1    Trimmer, J.S.2    Matthews, G.3
  • 16
    • 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. 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).
    • (2007) J. Neurosci. , vol.27 , pp. 5903-5914
    • Ogiwara, I.1
  • 17
    • 84866506083 scopus 로고    scopus 로고
    • Specific deletion of NaV1.1 channels in inhibitory interneurons causes seizures and premature death in amousemodel of dravet syndrome
    • The press
    • Cheah, C. S. et al. Specific deletion of NaV1.1 channels in inhibitory interneurons causes seizures and premature death in amousemodel of dravet syndrome. Proc. Natl Acad. Sci. USA. (in the press).
    • Proc. Natl Acad. Sci. USA.
    • Cheah, C.S.1
  • 18
    • 33846216337 scopus 로고    scopus 로고
    • 2q24-q31 deletion: Report of a case and review of the literature
    • Pescucci, C. et al. 2q24-q31 deletion: report of a case and review of the literature. Eur. J. Med. Genet. 50, 21-32 (2007).
    • (2007) Eur. J. Med. Genet. , vol.50 , pp. 21-32
    • Pescucci, C.1
  • 19
    • 55349094696 scopus 로고    scopus 로고
    • An analysis of candidate autism loci on chromosome 2q24-q33: Evidence for association to the STK39 gene
    • Ramoz, N., Cai, G., Reichert, J. G., Silverman, J. M. & Buxbaum, J. D. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Am. J. Med. Genet. B 147B, 1152-1158 (2008).
    • (2008) Am. J. Med. Genet. B , vol.147 B , pp. 1152-1158
    • Ramoz, N.1    Cai, G.2    Reichert, J.G.3    Silverman, J.M.4    Buxbaum, J.D.5
  • 20
    • 0037222315 scopus 로고    scopus 로고
    • Sodium channels SCN1A SCN2A and SCN3A in familial Autism
    • Weiss, L. A. et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychiatry 8, 186-194 (2003).
    • (2003) Mol. Psychiatry , vol.8 , pp. 186-194
    • Weiss, L.A.1
  • 21
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak, B. J. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genet. 43, 585-589 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 585-589
    • O'Roak, B.J.1
  • 22
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1
  • 23
    • 78149431869 scopus 로고    scopus 로고
    • Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
    • Chao, H. T. et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468, 263-269 (2010).
    • (2010) Nature , vol.468 , pp. 263-269
    • Chao, H.T.1
  • 24
    • 83055163327 scopus 로고    scopus 로고
    • Fragile X syndrome: The GABAergic system and circuit dysfunction
    • Paluszkiewicz, S. M., Martin, B. S. & Huntsman, M. M. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev. Neurosci. 33, 349-364 (2011).
    • (2011) Dev. Neurosci. , vol.33 , pp. 349-364
    • Paluszkiewicz, S.M.1    Martin, B.S.2    Huntsman, M.M.3
  • 25
    • 80053540965 scopus 로고    scopus 로고
    • Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    • Peñagarikano, O. et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147, 235-246 (2011).
    • (2011) Cell , vol.147 , pp. 235-246
    • Peñagarikano, O.1
  • 26
    • 0035317648 scopus 로고    scopus 로고
    • SuppressedGABAergic inhibition as a common factor in suspected etiologies of autism
    • Hussman, J. P. SuppressedGABAergic inhibition as a common factor in suspected etiologies of autism. J. Autism Dev. Disord. 31, 247-248 (2001).
    • (2001) J. Autism Dev. Disord. , vol.31 , pp. 247-248
    • Hussman, J.P.1
  • 27
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: Increased ratio of excitation/inhibition in key neural systems
    • Rubenstein, J. L. & Merzenich, M. M.Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav. 2, 255-267 (2003).
    • (2003) Genes Brain Behav. , vol.2 , pp. 255-267
    • Rubenstein, J.L.1    Merzenich, M.M.2
  • 28
    • 79953020632 scopus 로고    scopus 로고
    • The intense world theory-a unifying theory of the neurobiology of autism
    • Markram, K. & Markram, H. The intense world theory-a unifying theory of the neurobiology of autism. Front. Hum. Neurosci. 4, 224 (2010).
    • (2010) Front. Hum. Neurosci. , vol.4 , pp. 224
    • Markram, K.1    Markram, H.2
  • 29
    • 80052563319 scopus 로고    scopus 로고
    • Neocortical excitation/inhibition balance in information processing and social dysfunction
    • Yizhar, O. et al. Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature 477, 171-178 (2011).
    • (2011) Nature , vol.477 , pp. 171-178
    • Yizhar, O.1
  • 30
    • 12744261491 scopus 로고    scopus 로고
    • Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
    • Moretti, P., Bouwknecht, J. A., Teague, R., Paylor, R. & Zoghbi, H. Y. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum. Mol. Genet. 14, 205-220 (2005).
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 205-220
    • Moretti, P.1    Bouwknecht, J.A.2    Teague, R.3    Paylor, R.4    Zoghbi, H.Y.5
  • 31
    • 80051920294 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • Geschwind, D. H. Genetics of autism spectrum disorders. Trends Cogn. Sci. 15, 409-416 (2011).
    • (2011) Trends Cogn. Sci. , vol.15 , pp. 409-416
    • Geschwind, D.H.1
  • 32
    • 6344284388 scopus 로고    scopus 로고
    • Olfactory perception, communication, and the nose-to-brain pathway
    • Stockhorst, U. & Pietrowsky, R. Olfactory perception, communication, and the nose-to-brain pathway. Physiol. Behav. 83, 3-11 (2004).
    • (2004) Physiol. Behav. , vol.83 , pp. 3-11
    • Stockhorst, U.1    Pietrowsky, R.2
  • 33
    • 33746093550 scopus 로고    scopus 로고
    • Pheromone detection in male mice depends on signaling through the type 3 adenylyl cyclase in the main olfactory epithelium
    • Wang, Z. et al. Pheromone detection in male mice depends on signaling through the type 3 adenylyl cyclase in the main olfactory epithelium. J. Neurosci. 26, 7375-7379 (2006).
    • (2006) J. Neurosci. , vol.26 , pp. 7375-7379
    • Wang, Z.1
  • 35
    • 84866352950 scopus 로고    scopus 로고
    • Low Sociability in BTBR T 1 TfJ Mice Is independent of partner strain
    • 8 January 2012
    • Yang, M. et al. Low sociability in BTBR T 1 tf/J mice is independent of partner strain. Physiol. Behav. http://dx.doi.org/10.1016/j.physbeh.2011.12.025 (8 January 2012).
    • Physiol. Behav.
    • Yang, M.1
  • 36
    • 30344433754 scopus 로고    scopus 로고
    • Change detection in children with autism: An auditory eventrelated fMRI study
    • Gomot, M. et al. Change detection in children with autism: an auditory eventrelated fMRI study. Neuroimage 29, 475-484 (2006).
    • (2006) Neuroimage , vol.29 , pp. 475-484
    • Gomot, M.1
  • 37
    • 69449104014 scopus 로고    scopus 로고
    • Dlx1 & 2 and Mash1 transcription factors control MGE and CGE patterning and differentiation through parallel and overlapping pathways
    • Long, J. E., Cobos, I., Potter, G. B. & Rubenstein, J. L. Dlx1 & 2 and Mash1 transcription factors control MGE and CGE patterning and differentiation through parallel and overlapping pathways. Cereb. Cortex 19 (Suppl. 1), i96-i106 (2009).
    • (2009) Cereb. Cortex , vol.19 , Issue.SUPPL. 1
    • Long, J.E.1    Cobos, I.2    Potter, G.B.3    Rubenstein, J.L.4
  • 38
    • 59049084993 scopus 로고    scopus 로고
    • Generation of Cre-transgenic mice using Dlx1/Dlx2 enhancers and their characterization in GABAergic interneurons
    • Potter, G. B. et al. Generation of Cre-transgenic mice using Dlx1/Dlx2 enhancers and their characterization in GABAergic interneurons. Mol. Cell. Neurosci. 40, 167-186 (2009).
    • (2009) Mol. Cell. Neurosci. , vol.40 , pp. 167-186
    • Potter, G.B.1
  • 39
    • 80052274158 scopus 로고    scopus 로고
    • Beyond classical benzodiazepines: Novel therapeutic potential of GABAA receptor subtypes
    • Rudolph, U. & Knoflach, F. Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes. Nature Rev. Drug Discov. 10, 685-697 (2011).
    • (2011) Nature Rev. Drug Discov. , vol.10 , pp. 685-697
    • Rudolph, U.1    Knoflach, F.2
  • 40
    • 0034613173 scopus 로고    scopus 로고
    • Molecular and neuronal substrate for the selective attenuation of anxiety
    • Löw, K. et al. Molecular and neuronal substrate for the selective attenuation of anxiety. Science 290, 131-134 (2000).
    • (2000) Science , vol.290 , pp. 131-134
    • Löw, K.1
  • 41
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autismgenetics: On the threshold of a new neurobiology
    • Abrahams, B. S. & Geschwind, D. H. Advances in autismgenetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341-355 (2008).
    • (2008) Nature Rev. Genet. , vol.9 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 42
    • 0026486374 scopus 로고
    • Early diagnosis of severe myoclonic epilepsy in infancy
    • Yakoub, M., Dulac, O., Jambaque, I., Chiron, C. & Plouin, P. Early diagnosis of severe myoclonic epilepsy in infancy. Brain Dev. 14, 299-303 (1992).
    • (1992) Brain Dev , vol.14 , pp. 299-303
    • Yakoub, M.1    Dulac, O.2    Jambaque, I.3    Chiron, C.4    Plouin, P.5
  • 43
    • 80053583200 scopus 로고    scopus 로고
    • Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders
    • 649325
    • Rossignol, E. Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. Neural Plast. 2011, 649325 (2011).
    • (2011) Neural Plast. , vol.2011
    • Rossignol, E.1


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