TY - JOUR AU - Imbrici, P. AU - Camerino, D. C. AU - Tricarico, D. PY - 2013 DA - 2013// TI - Major channels involved in neuropsychiatric disorders and therapeutic perspectives JO - Front Genet VL - 4 UR - https://doi.org/10.3389/fgene.2013.00076 DO - 10.3389/fgene.2013.00076 ID - Imbrici2013 ER - TY - JOUR AU - Celle, M. E. AU - Cuoco, C. AU - Porta, S. AU - Gimelli, G. AU - Tassano, E. PY - 2013 DA - 2013// TI - Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures JO - Gene VL - 532 UR - https://doi.org/10.1016/j.gene.2013.09.073 DO - 10.1016/j.gene.2013.09.073 ID - Celle2013 ER - TY - JOUR AU - Meisler, M. H. AU - O’Brien, J. E. AU - Sharkey, L. M. PY - 2010 DA - 2010// TI - Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects JO - J Physiol VL - 588 UR - https://doi.org/10.1113/jphysiol.2010.188482 DO - 10.1113/jphysiol.2010.188482 ID - Meisler2010 ER - TY - JOUR AU - Philippe, A. AU - Martinez, M. AU - Guilloud-Bataille, M. AU - Gillberg, C. AU - Råstam, M. AU - Sponheim, E. PY - 1999 DA - 1999// TI - Genome-wide scan for autism susceptibility genes. Paris autism research international Sibpair study JO - Hum Mol Genet VL - 8 UR - https://doi.org/10.1093/hmg/8.5.805 DO - 10.1093/hmg/8.5.805 ID - Philippe1999 ER - TY - JOUR AU - Weiss, L. A. AU - Escayg, A. AU - Kearney, J. A. AU - Trudeau, M. AU - MacDonald, B. T. AU - Mori, M. PY - 2003 DA - 2003// TI - Sodium channels SCN1A, SCN2A and SCN3A in familial autism JO - Mol Psychiatry VL - 8 UR - https://doi.org/10.1038/sj.mp.4001241 DO - 10.1038/sj.mp.4001241 ID - Weiss2003 ER - TY - JOUR AU - Bender, A. C. AU - Morse, R. P. AU - Scott, R. C. AU - Holmes, G. L. AU - Lenck-Santini, P. -. P. PY - 2012 DA - 2012// TI - SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome JO - Epilepsy Behav EB VL - 23 UR - https://doi.org/10.1016/j.yebeh.2011.11.022 DO - 10.1016/j.yebeh.2011.11.022 ID - Bender2012 ER - TY - JOUR AU - Le, S. V. AU - Le, P. H. T. AU - Le, T. K. V. AU - Kieu Huynh, T. T. AU - Hang Do, T. T. PY - 2017 DA - 2017// TI - A mutation in GABRB3 associated with Dravet syndrome JO - Am J Med Genet A VL - 173 UR - https://doi.org/10.1002/ajmg.a.38282 DO - 10.1002/ajmg.a.38282 ID - Le2017 ER - TY - JOUR AU - Sanders, S. J. AU - Murtha, M. T. AU - Gupta, A. R. AU - Murdoch, J. D. AU - Raubeson, M. J. AU - Willsey, A. J. PY - 2012 DA - 2012// TI - De novo mutations revealed by whole-exome sequencing are strongly associated with autism JO - Nature VL - 485 UR - https://doi.org/10.1038/nature10945 DO - 10.1038/nature10945 ID - Sanders2012 ER - TY - JOUR AU - Berkovic, S. F. AU - Heron, S. E. AU - Giordano, L. AU - Marini, C. AU - Guerrini, R. AU - Kaplan, R. E. PY - 2004 DA - 2004// TI - Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy JO - Ann Neurol VL - 55 UR - https://doi.org/10.1002/ana.20029 DO - 10.1002/ana.20029 ID - Berkovic2004 ER - TY - JOUR AU - Kamiya, K. AU - Kaneda, M. AU - Sugawara, T. AU - Mazaki, E. AU - Okamura, N. AU - Montal, M. PY - 2004 DA - 2004// TI - A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline JO - J Neurosci VL - 24 UR - https://doi.org/10.1523/JNEUROSCI.3089-03.2004 DO - 10.1523/JNEUROSCI.3089-03.2004 ID - Kamiya2004 ER - TY - JOUR AU - Liao, Y. AU - Anttonen, A. -. K. AU - Liukkonen, E. AU - Gaily, E. AU - Maljevic, S. AU - Schubert, S. PY - 2010 DA - 2010// TI - SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain JO - Neurology VL - 75 UR - https://doi.org/10.1212/WNL.0b013e3181f8812e DO - 10.1212/WNL.0b013e3181f8812e ID - Liao2010 ER - TY - JOUR AU - Ogiwara, I. AU - Ito, K. AU - Sawaishi, Y. AU - Osaka, H. AU - Mazaki, E. AU - Inoue, I. PY - 2009 DA - 2009// TI - De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies JO - Neurology VL - 73 UR - https://doi.org/10.1212/WNL.0b013e3181b9cebc DO - 10.1212/WNL.0b013e3181b9cebc ID - Ogiwara2009 ER - TY - JOUR AU - Bartnik, M. AU - Chun-Hui Tsai, A. AU - Xia, Z. AU - Cheung, S. W. AU - Stankiewicz, P. PY - 2011 DA - 2011// TI - Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures JO - Clin Genet VL - 80 UR - https://doi.org/10.1111/j.1399-0004.2010.01526.x DO - 10.1111/j.1399-0004.2010.01526.x ID - Bartnik2011 ER - TY - STD TI - Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Epilepsy Res. 2008;81:69–79. ID - ref14 ER - TY - JOUR AU - Holland, K. D. AU - Kearney, J. A. AU - Glauser, T. A. AU - Buck, G. AU - Keddache, M. AU - Blankston, J. R. PY - 2008 DA - 2008// TI - Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy JO - Neurosci Lett VL - 433 UR - https://doi.org/10.1016/j.neulet.2007.12.064 DO - 10.1016/j.neulet.2007.12.064 ID - Holland2008 ER - TY - JOUR AU - Chen, C. -. P. AU - Lin, S. -. P. AU - Chern, S. -. R. AU - Chen, Y. -. J. AU - Tsai, F. -. J. AU - Wu, P. -. C. PY - 2010 DA - 2010// TI - Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay JO - Eur J Med Genet. VL - 53 UR - https://doi.org/10.1016/j.ejmg.2010.03.006 DO - 10.1016/j.ejmg.2010.03.006 ID - Chen2010 ER - TY - JOUR AU - Uddin, L. Q. AU - Dajani, D. R. AU - Voorhies, W. AU - Bednarz, H. AU - Kana, R. K. PY - 2017 DA - 2017// TI - Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder JO - Transl Psychiatry VL - 7 UR - https://doi.org/10.1038/tp.2017.164 DO - 10.1038/tp.2017.164 ID - Uddin2017 ER - TY - JOUR AU - Cooper, G. M. AU - Coe, B. P. AU - Girirajan, S. AU - Rosenfeld, J. A. AU - Vu, T. H. AU - Baker, C. PY - 2011 DA - 2011// TI - A copy number variation morbidity map of developmental delay JO - Nat Genet VL - 43 UR - https://doi.org/10.1038/ng.909 DO - 10.1038/ng.909 ID - Cooper2011 ER - TY - JOUR AU - Gurney, K. AU - Prescott, T. J. AU - Wickens, J. R. AU - Redgrave, P. PY - 2004 DA - 2004// TI - Computational models of the basal ganglia: from robots to membranes JO - Trends Neurosci VL - 27 UR - https://doi.org/10.1016/j.tins.2004.06.003 DO - 10.1016/j.tins.2004.06.003 ID - Gurney2004 ER - TY - JOUR AU - Kalanithi, P. S. A. AU - Zheng, W. AU - Kataoka, Y. AU - DiFiglia, M. AU - Grantz, H. AU - Saper, C. B. PY - 2005 DA - 2005// TI - Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome JO - Proc Natl Acad Sci U S A VL - 102 UR - https://doi.org/10.1073/pnas.0502624102 DO - 10.1073/pnas.0502624102 ID - Kalanithi2005 ER - TY - JOUR AU - Kataoka, Y. AU - Kalanithi, P. S. A. AU - Grantz, H. AU - Schwartz, M. L. AU - Saper, C. AU - Leckman, J. F. PY - 2010 DA - 2010// TI - Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome JO - J Comp Neurol VL - 518 UR - https://doi.org/10.1002/cne.22206 DO - 10.1002/cne.22206 ID - Kataoka2010 ER - TY - JOUR AU - Wang, W. AU - Takashima, S. AU - Segawa, Y. AU - Itoh, M. AU - Shi, X. AU - Hwang, S. -. K. PY - 2011 DA - 2011// TI - The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe JO - Brain Res VL - 1389 UR - https://doi.org/10.1016/j.brainres.2011.02.083 DO - 10.1016/j.brainres.2011.02.083 ID - Wang2011 ER - TY - JOUR AU - Mackenzie, B. AU - Erickson, J. D. PY - 2004 DA - 2004// TI - Sodium-coupled neutral amino acid (system N/a) transporters of the SLC38 gene family JO - Pflugers Arch VL - 447 UR - https://doi.org/10.1007/s00424-003-1117-9 DO - 10.1007/s00424-003-1117-9 ID - Mackenzie2004 ER - TY - JOUR AU - Han, S. H. AU - Kim, S. -. H. AU - Kim, H. -. J. AU - Lee, Y. AU - Choi, S. -. Y. AU - Park, G. PY - 2017 DA - 2017// TI - Cobll1 is linked to drug resistance and blastic transformation in chronic myeloid leukemia JO - Leukemia VL - 31 UR - https://doi.org/10.1038/leu.2017.72 DO - 10.1038/leu.2017.72 ID - Han2017 ER - TY - JOUR AU - Holt, L. J. AU - Siddle, K. PY - 2005 DA - 2005// TI - Grb10 and Grb14: enigmatic regulators of insulin action--and more? JO - Biochem J VL - 388 UR - https://doi.org/10.1042/BJ20050216 DO - 10.1042/BJ20050216 ID - Holt2005 ER - TY - JOUR AU - Wong, V. C. N. AU - Fung, C. W. AU - Kwong, A. K. Y. PY - 2015 DA - 2015// TI - SCN2A mutation in a Chinese boy with infantile spasm - response to modified Atkins diet JO - Brain and Development VL - 37 UR - https://doi.org/10.1016/j.braindev.2014.10.008 DO - 10.1016/j.braindev.2014.10.008 ID - Wong2015 ER - TY - JOUR AU - Kossoff, E. H. AU - Cervenka, M. C. AU - Henry, B. J. AU - Haney, C. A. AU - Turner, Z. PY - 2013 DA - 2013// TI - A decade of the modified Atkins diet (2003–2013): results, insights, and future directions JO - Epilepsy Behav EB. VL - 29 UR - https://doi.org/10.1016/j.yebeh.2013.09.032 DO - 10.1016/j.yebeh.2013.09.032 ID - Kossoff2013 ER - TY - JOUR AU - Lutas, A. AU - Yellen, G. PY - 2013 DA - 2013// TI - The ketogenic diet: metabolic influences on brain excitability and epilepsy JO - Trends Neurosci VL - 36 UR - https://doi.org/10.1016/j.tins.2012.11.005 DO - 10.1016/j.tins.2012.11.005 ID - Lutas2013 ER - TY - JOUR AU - Chiron, C. PY - 2011 DA - 2011// TI - Current therapeutic procedures in Dravet syndrome JO - Dev Med Child Neurol VL - 53 UR - https://doi.org/10.1111/j.1469-8749.2011.03967.x DO - 10.1111/j.1469-8749.2011.03967.x ID - Chiron2011 ER - TY - JOUR AU - Chiron, C. AU - Marchand, M. C. AU - Tran, A. AU - Rey, E. AU - d’Athis, P. AU - Vincent, J. PY - 2000 DA - 2000// TI - Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group JO - Lancet Lond Engl VL - 356 UR - https://doi.org/10.1016/S0140-6736(00)03157-3 DO - 10.1016/S0140-6736(00)03157-3 ID - Chiron2000 ER - TY - JOUR AU - Devinsky, O. AU - Cross, J. H. AU - Laux, L. AU - Marsh, E. AU - Miller, I. AU - Nabbout, R. PY - 2017 DA - 2017// TI - Trial of Cannabidiol for drug-resistant seizures in the Dravet syndrome JO - N Engl J Med VL - 376 UR - https://doi.org/10.1056/NEJMoa1611618 DO - 10.1056/NEJMoa1611618 ID - Devinsky2017 ER -