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Ion channel gene defects
Citations 71-80 of 93 total displayed.
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Past content
(since Aug 2001):
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- ARTICLES
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR  subunit mutation
- X.-M. Shen, K. Ohno, T. Fukudome, A. Tsujino, J.M. Brengman, D.C. De Vivo, R.J. Packer, and A.G. Engel
Neurology 2002; 59: 1881-1888.
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- BRIEF COMMUNICATIONS
A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A
- T. Shirakawa, K. Sakai, Y. Kitagawa, A. Hori, and G. Hirose
Neurology 2002; 59: 1091-1094.
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- BRIEF COMMUNICATIONS
Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13
- S.E. Noble-Topham, D.A. Dyment, M.Z. Cader, R. Ganapathy, J.D. Brown, G.P.A. Rice, and G.C. Ebers
Neurology 2002; 59: 1099-1101.
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- CLINICAL/SCIENTIFIC NOTES
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome
- J. Junker, W. Haverkamp, E. Schulze-Bahr, L. Eckardt, W. Paulus, and R. Kiefer
Neurology 2002; 59: 466.
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- VIEWS & REVIEWS
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
- R. Croxen, C. Hatton, C. Shelley, M. Brydson, G. Chauplannaz, H. Oosterhuis, A. Vincent, J. Newsom-Davis, D. Colquhoun, and D. Beeson
Neurology 2002; 59: 162-168.
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- BRIEF COMMUNICATIONS
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
- H. Jungbluth, C. R. Müller, B. Halliger–Keller, M. Brockington, S. C. Brown, L. Feng, A. Chattopadhyay, E. Mercuri, A. Y. Manzur, A. Ferreiro, N. G. Laing, M. R. Davis, H. P. Roper, V. Dubowitz, G. Bydder, C. A. Sewry, and F. Muntoni
Neurology 2002; 59: 284-287.
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- BRIEF COMMUNICATIONS
Familial temporal lobe epilepsy with febrile seizures
- C. Depondt, W. Van Paesschen, G. Matthijs, E. Legius, K. Martens, P. Demaerel, and G. Wilms
Neurology 2002; 58: 1429-1433.
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- ARTICLES
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
- S. Bendahhou, T. R. Cummins, R. W. Kula, Y.-H. Fu, and L. J. Ptácek
Neurology 2002; 58: 1266-1272.
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- BRIEF COMMUNICATIONS
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
- T. Sugawara, E. Mazaki–Miyazaki, K. Fukushima, J. Shimomura, T. Fujiwara, S. Hamano, Y. Inoue, and K. Yamakawa
Neurology 2002; 58: 1122-1124.
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- ARTICLES
Ciguatera fish poisoning: A double-blind randomized trial of mannitol therapy
- Hans Schnorf, M. Taurarii, and T. Cundy
Neurology 2002; 58: 873-880.
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