Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission (original) (raw)

• Wolff, M., Casse-Perrot, C. & Dravet, C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 47 (Suppl. 2). 45–48 (2006)
  Article Google Scholar
• Genton, P., Velizarova, R. & Dravet, C. Dravet syndrome: the long-term outcome. Epilepsia 52 (Suppl 2). 44–49 (2011)
  Article Google Scholar
• Li, B. M. et al. Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. Epilepsy Behav. 21, 291–295 (2011)
  Article Google Scholar
• Brunklaus, A., Dorris, L. & Zuberi, S. M. Comorbidities and predictors of health-related quality of life in Dravet syndrome. Epilepsia 52, 1476–1482 (2011)
  Article Google Scholar
• Besag, F. M. Behavioral aspects of pediatric epilepsy syndromes. Epilepsy Behav. 5 (Suppl. 1). 3–13 (2004)
  Article Google Scholar
• Mahoney, K. et al. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure 18, 492–497 (2009)
  Article Google Scholar
• Claes, L. et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327–1332 (2001)
  Article CAS Google Scholar
• Catterall, W. A. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 26, 13–25 (2000)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• Oakley, J. C., Kalume, F., Yu, F. H., Scheuer, T. & Catterall, W. A. Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc. Natl Acad. Sci. USA 106, 3994–3999 (2009)
  Article CAS ADS Google Scholar
• 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)
  Article CAS Google Scholar
• Catterall, W. A., Kalume, F. & Oakley, J. C. NaV1.1 channels and epilepsy. J. Physiol. (Lond.) 588, 1849–1859 (2010)
  Article CAS Google Scholar
• Westenbroek, R. E., Merrick, D. K. & Catterall, W. A. Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons. Neuron 3, 695–704 (1989)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• Cheah, C. S. et al. Specific deletion of NaV1.1 channels in inhibitory interneurons causes seizures and premature death in a mouse model of dravet syndrome. Proc. Natl Acad. Sci. USA (in the press)
• Pescucci, C. et al. 2q24–q31 deletion: report of a case and review of the literature. Eur. J. Med. Genet. 50, 21–32 (2007)
  Article CAS Google Scholar
• 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)
  Article Google Scholar
• Weiss, L. A. et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychiatry 8, 186–194 (2003)
  Article CAS Google Scholar
• O’Roak, B. J. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genet. 43, 585–589 (2011)
  Article Google Scholar
• O’Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250 (2012)
  Article ADS Google Scholar
• Chao, H. T. et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468, 263–269 (2010)
  Article CAS ADS Google Scholar
• Paluszkiewicz, S. M., Martin, B. S. & Huntsman, M. M. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev. Neurosci. 33, 349–364 (2011)
  Article CAS Google Scholar
• Peñagarikano, O. et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147, 235–246 (2011)
  Article Google Scholar
• Hussman, J. P. Suppressed GABAergic inhibition as a common factor in suspected etiologies of autism. J. Autism Dev. Disord. 31, 247–248 (2001)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• Markram, K. & Markram, H. The intense world theory – a unifying theory of the neurobiology of autism. Front. Hum. Neurosci. 4, 224 (2010)
  Article Google Scholar
• Yizhar, O. et al. Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature 477, 171–178 (2011)
  Article CAS ADS Google Scholar
• 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)
  Article CAS Google Scholar
• Geschwind, D. H. Genetics of autism spectrum disorders. Trends Cogn. Sci. 15, 409–416 (2011)
  Article Google Scholar
• Stockhorst, U. & Pietrowsky, R. Olfactory perception, communication, and the nose-to-brain pathway. Physiol. Behav. 83, 3–11 (2004)
  Article CAS Google Scholar
• 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)
  Article CAS Google Scholar
• Silverman, J. L., Yang, M., Lord, C. & Crawley, J. N. Behavioural phenotyping assays for mouse models of autism. Nature Rev. Neurosci. 11, 490–502 (2010)
  Article CAS Google Scholar
• Yang, M. et al. Low sociability in BTBR T + tf/J mice is independent of partner strain. Physiol. Behav.. http://dx.doi.org/10.1016/j.physbeh.2011.12.025 (8 January 2012)
• Gomot, M. et al. Change detection in children with autism: an auditory event-related fMRI study. Neuroimage 29, 475–484 (2006)
  Article Google Scholar
• 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)
  Article Google Scholar
• 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)
  Article CAS Google Scholar
• Rudolph, U. & Knoflach, F. Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes. Nature Rev. Drug Discov. 10, 685–697 (2011)
  Article CAS Google Scholar
• Löw, K. et al. Molecular and neuronal substrate for the selective attenuation of anxiety. Science 290, 131–134 (2000)
  Article ADS Google Scholar
• Abrahams, B. S. & Geschwind, D. H. Advances in autism genetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341–355 (2008)
  Article CAS Google Scholar
• Yakoub, M., Dulac, O., Jambaque, I., Chiron, C. & Plouin, P. Early diagnosis of severe myoclonic epilepsy in infancy. Brain Dev. 14, 299–303 (1992)
  Article CAS Google Scholar
• Rossignol, E. Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. Neural Plast. 2011, 649325 (2011)
  Article CAS Google Scholar
• Paluszkiewicz, S. M., Olmos-Serrano, J. L., Corbin, J. G. & Huntsman, M. M. Impaired inhibitory control of cortical synchronization in fragile X syndrome. J. Neurophysiol. 106, 2264–2272 (2011)
  Article CAS Google Scholar