Chapter 17 – Convulsive Disorders
作者： M TTODOROVA , T NSEYFRIED
DOI: 10.1016/B978-012369454-6/50071-6
关键词:
摘要: Publisher Summary An epileptic seizure is characterized by sudden, involuntary behavior triggered synchronized abnormal discharge of cortical neurons in the central nervous system. Convulsive disorders refer to epilepsies. Any tendency experience recurrent activity major or minor intensity known as epilepsy. Epilepsy one most common neurologic disorders, affecting about 4% human population worldwide. Despite progress understanding genetics and pathogenesis epilepsy, cellular onset progression disease still poorly understood. This chapter reviews several categories available mouse mutants, including homologous models which mice carry mutations same genes discovered orphan with not yet linked seizures, multifactorial where susceptibility seizures depends on interaction between genetic loci environmental factors.
sci-hub.st 参考文章(49)
J. Victor Nadler, Kainic acid as a tool for the study of temporal lobe epilepsy Life Sciences. ,vol. 29, pp. 2031- 2042 ,(1981) , 10.1016/0024-3205(81)90659-7
J. H. M. Knoll, J. Wagstaff, M. Lalande, F. Greenberg, J. C. Venter, J. M. Graham, E. F. Kirkness, D. Ward, J. Fleming, A. Martin-Gallardo, J. Menninger, Localization of the gene encoding the GABAA receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15 American Journal of Human Genetics. ,vol. 49, pp. 330- 337 ,(1991)
Berge A Minassian, Jeffrey R Lee, Jo-Anne Herbrick, Jack Huizenga, Sylvia Soder, Andrew J Mungall, Ian Dunham, Rebecca Gardner, Chung-yan G Fong, Stirling Carpenter, Laura Jardim, P Satishchandra, Eva Andermann, O Carter Snead, Iscia Lopes-Cendes, Lap-Chee Tsui, Antonio V Delgado-Escueta, Guy A Rouleau, Stephen W Scherer, None, Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nature Genetics. ,vol. 20, pp. 171- 174 ,(1998) , 10.1038/2470
Thomas N. Ferraro, Gregory T. Golden, George G. Smith, Pamela St. Jean, Nicholas J. Schork, Nicole Mulholland, Christos Ballas, Jörg Schill, Russell J. Buono, Wade H. Berrettini, Mapping Loci for Pentylenetetrazol-Induced Seizure Susceptibility in Mice The Journal of Neuroscience. ,vol. 19, pp. 6733- 6739 ,(1999) , 10.1523/JNEUROSCI.19-16-06733.1999
T.S. Walczak, I.E. Leppik, M. D'Amelio, J. Rarick, E. So, P. Ahman, K. Ruggles, G.D. Cascino, J.F. Annegers, W.A. Hauser, Incidence and risk factors in sudden unexpected death in epilepsy: A prospective cohort study Neurology. ,vol. 56, pp. 519- 525 ,(2001) , 10.1212/WNL.56.4.519
Laura A. E. M. Laan, Willy O. Renier, Willem Frans M. Arts, Inge M. Buntinx, Ineke J. A. M. v.d. Burgt, Hans Stroink, Joke Beuten, Koos H. Zwinderman, J. Gert Dijk, Oebele F. Brouwer, Evolution of Epilepsy and EEG Findings in Angelman Syndrome Epilepsia. ,vol. 38, pp. 195- 199 ,(1997) , 10.1111/J.1528-1157.1997.TB01097.X
R. Planells-Cases, M. Caprini, J. Zhang, E.M. Rockenstein, R.R. Rivera, C. Murre, E. Masliah, M. Montal, Neuronal Death and Perinatal Lethality in Voltage-Gated Sodium Channel αII-Deficient Mice Biophysical Journal. ,vol. 78, pp. 2878- 2891 ,(2000) , 10.1016/S0006-3495(00)76829-9
Shigeharu Wakana, Eiichi Sugaya, Fumiki Naramoto, Norikazu Yokote, Chika Maruyama, Wen Jin, Hiromi Ohguchi, Tadashi Tsuda, Aiko Sugaya, Kagemasa Kajiwara, Gene mapping of SEZ group genes and determination of pentylenetetrazol susceptible quantitative trait loci in the mouse chromosome Brain Research. ,vol. 857, pp. 286- 290 ,(2000) , 10.1016/S0006-8993(99)02406-3
Ronald G. Lafreniére, Daniel L. Rochefort, Nathalie Chrétien, Johanna M. Rommens, Jeffrey I. Cochius, Reetta Kälviäinen, Unto Nousiainen, George Patry, Kevin Farrell, Birgitta Söderfeldt, Antonio Federico, Bradford R. Hale, Otto Hernandez Cossio, Troels Sørensen, Marc A. Pouliot, Tomasz Kmiec, Peter Uldall, József Janszky, Michael R. Pranzatelli, Frederick Andermann, Eva Andermann, Guy A. Rouleau, Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 Nature Genetics. ,vol. 15, pp. 298- 302 ,(1997) , 10.1038/NG0397-298
Jaakko Lappalainen, Li Zhang, Michael Dean, Murat Oz, Norio Ozaki, Da-hong Yu, Matti Virkkunen, Forrest Weight, Markku Linnoila, David Goldman, Identification, Expression, and Pharmacology of a Cys23-Ser23 Substitution in the Human 5-HT2C Receptor Gene (HTR2C) Genomics. ,vol. 27, pp. 274- 279 ,(1995) , 10.1006/GENO.1995.1042