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Ion channel gene defects
Citations 41-50 of 93 total displayed.
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Past content
(since Aug 2001):
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- ARTICLES
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria
- M. K. Bruno, M. Hallett, K. Gwinn-Hardy, B. Sorensen, E. Considine, S. Tucker, D. R. Lynch, K. D. Mathews, K. J. Swoboda, J. Harris, B.-W. Soong, T. Ashizawa, J. Jankovic, D. Renner, Y.-H. Fu, and L. J. Ptacek
Neurology 2004; 63: 2280-2287.
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- ARTICLES
Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current
- Jim Berg, Hong Jiang, Charles A. Thornton, and Stephen C. Cannon
Neurology 2004; 63: 2371-2375.
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- ARTICLES
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
- S. Vicart, D. Sternberg, E. Fournier, F. Ochsner, P. Laforet, T. Kuntzer, B. Eymard, B. Hainque, and B. Fontaine
Neurology 2004; 63: 2120-2127.
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- BRIEF COMMUNICATIONS
De novo KCNQ2 mutations in patients with benign neonatal seizures
- L. R.F. Claes, B. Ceulemans, D. Audenaert, L. Deprez, A. Jansen, D. Hasaerts, S. Weckx, K. G. Claeys, J. Del-Favero, C. Van Broeckhoven, and P. De Jonghe
Neurology 2004; 63: 2155-2158.
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- ARTICLES
Correlating phenotype and genotype in the periodic paralyses
- T. M. Miller, M. R. Dias da Silva, H. A. Miller, H. Kwiecinski, J. R. Mendell, R. Tawil, P. McManis, R. C. Griggs, C. Angelini, S. Servidei, J. Petajan, M. C. Dalakas, L. P.W. Ranum, Y. H. Fu, and L. J. Ptácek
Neurology 2004; 63: 1647-1655.
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- BRIEF COMMUNICATIONS
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy
- D. D’Agostino, M. Bertelli, S. Gallo, S. Cecchin, E. Albiero, P. G. Garofalo, A. Gambardella, J.-M. St. Hilaire, H. Kwiecinski, E. Andermann, and M. Pandolfo
Neurology 2004; 63: 1500-1502.
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- ARTICLES
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
- G. Van Goethem, P. Luoma, M. Rantamäki, A. Al Memar, S. Kaakkola, P. Hackman, R. Krahe, A. Löfgren, J. J. Martin, P. De Jonghe, A. Suomalainen, B. Udd, and C. Van Broeckhoven
Neurology 2004; 63: 1251-1257.
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- CLINICAL/SCIENTIFIC NOTES
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
- E. E. Kors, A. Melberg, K. R.J. Vanmolkot, E. Kumlien, J. Haan, R. Raininko, R. Flink, H. B. Ginjaar, R. R. Frants, M. D. Ferrari, and A. M.J.M. van den Maagdenberg
Neurology 2004; 63: 1136-1137.
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- BRIEF COMMUNICATIONS
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family
- C. H. Tsai, F. C. Chang, Y. C. Su, F. J. Tsai, M. K. Lu, C. C. Lee, C. C. Kuo, Y. W. Yang, and C. S. Lu
Neurology 2004; 63: 893-896.
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- ARTICLES
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
- K. Kanai, S. Hirose, H. Oguni, G. Fukuma, Y. Shirasaka, T. Miyajima, K. Wada, H. Iwasa, S. Yasumoto, M. Matsuo, M. Ito, A. Mitsudome, and S. Kaneko
Neurology 2004; 63: 329-334.
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