Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases
作者： William A Catterall , Sulayman Dib-Hajj , Miriam H Meisler , Daniela Pietrobon , None
DOI: 10.1523/JNEUROSCI.3901-08.2008
关键词:
摘要: … These mutations increase activation at negative membrane potentials and increase evoked … an animal model of GEFS+ that will permit more detailed analysis of the effect of mutations …
sci-hub.se 参考文章(88)
Kathleen Dunlap, Jennifer I. Luebke, Timothy J. Turner, Exocytotic Ca2+ channels in mammalian central neurons. Trends in Neurosciences. ,vol. 18, pp. 89- 98 ,(1995) , 10.1016/0166-2236(95)80030-6
Donna M. Krzemien, Kristin L. Schaller, S. Rock Levinson, John H. Caldwell, Immunolocalization of sodium channel isoform NaCh6 in the nervous system. The Journal of Comparative Neurology. ,vol. 420, pp. 70- 83 ,(2000) , 10.1002/(SICI)1096-9861(20000424)420:1<70::AID-CNE5>3.0.CO;2-P
T. Sugawara, E. Mazaki-Miyazaki, K. Fukushima, J. Shimomura, T. Fujiwara, S. Hamano, Y. Inoue, K. Yamakawa, Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy Neurology. ,vol. 58, pp. 1122- 1124 ,(2002) , 10.1212/WNL.58.7.1122
Miriam H. Meisler, Nicholas W. Plummer, Daniel L. Burgess, David A. Buchner, Leslie K. Sprunger, Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica. ,vol. 122, pp. 37- 45 ,(2004) , 10.1007/S10709-004-1441-9
K. M. Kahlig, T. H. Rhodes, M. Pusch, T. Freilinger, J. M. Pereira-Monteiro, M. D. Ferrari, A. M. J. M. van den Maagdenberg, M. Dichgans, A. L. George, Divergent sodium channel defects in familial hemiplegic migraine. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 105, pp. 9799- 9804 ,(2008) , 10.1073/PNAS.0711717105
Daniela Pietrobon, Familial hemiplegic migraine Neurotherapeutics. ,vol. 4, pp. 274- 284 ,(2007) , 10.1016/J.NURT.2007.01.008
Daniel L. Burgess, David C. Kohrman, James Galt, Nicholas W. Plummer, Julie M. Jones, Brett Spear, Miriam H. Meisler, Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease' Nature Genetics. ,vol. 10, pp. 461- 465 ,(1995) , 10.1038/NG0895-461
A. L. George, Inherited disorders of voltage-gated sodium channels Journal of Clinical Investigation. ,vol. 115, pp. 1990- 1999 ,(2005) , 10.1172/JCI25505
J.A Kearney, N.W Plummer, M.R Smith, J Kapur, T.R Cummins, S.G Waxman, A.L Goldin, M.H Meisler, A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. ,vol. 102, pp. 307- 317 ,(2001) , 10.1016/S0306-4522(00)00479-6
Jennifer A. Kearney, Yan Yang, Barbara Beyer, Sarah K. Bergren, Lieve Claes, Peter DeJonghe, Wayne N. Frankel, Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2 Human Molecular Genetics. ,vol. 15, pp. 1043- 1048 ,(2006) , 10.1093/HMG/DDL019