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Neurology
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Ion channel gene defects

Citations 61-70 of 93 total displayed.

Past content (since Aug 2001):

ARTICLES
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis
Y. Sugiura, N. Makita, L. Li, P. J. Noble, J. Kimura, Y. Kumagai, T. Soeda, and T. Yamamoto
Neurology 2003; 61: 914-918. [Abstract] [Full text] [PDF]  

ARTICLES
Sodium channel {alpha}1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
R. H. Wallace, B. L. Hodgson, B. E. Grinton, R. M. Gardiner, R. Robinson, V. Rodriguez–Casero, L. Sadleir, J. Morgan, L. A. Harkin, L. M. Dibbens, T. Yamamoto, E. Andermann, J. C. Mulley, S. F. Berkovic, and I. E. Scheffer
Neurology 2003; 61: 765-769. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
D. Audenaert, L. Claes, B. Ceulemans, A. Löfgren, C. Van Broeckhoven, and P. De Jonghe
Neurology 2003; 61: 854-856. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysis
D. Sternberg, N. Tabti, E. Fournier, B. Hainque, and B. Fontaine
Neurology 2003; 61: 857-859. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel KCNQ2 K+channel mutation in benign neonatal convulsions and centrotemporal spikes
G. Coppola, P. Castaldo, E. Miraglia del Giudice, G. Bellini, F. Galasso, M.V. Soldovieri, L. Anzalone, C. Sferro, L. Annunziato, A. Pascotto, and M. Taglialatela
Neurology 2003; 61: 131-134. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
A. Vihola, G. Bassez, G. Meola, S. Zhang, H. Haapasalo, A. Paetau, E. Mancinelli, A. Rouche, J.Y. Hogrel, P. Laforêt, T. Maisonobe, J.F. Pellissier, R. Krahe, B. Eymard, and B. Udd
Neurology 2003; 60: 1854-1857. [Abstract] [Full text] [PDF]  

EDITORIALS
Sporadic hemiplegic migraine: Stamp collecting or food for thought?
Peter J. Goadsby
Neurology 2003; 60: 536-537. [Full text] [PDF]  

ARTICLES
Evidence for a separate type of migraine with aura: Sporadic hemiplegic migraine
Lise L. Thomsen, Elsebet Ostergaard, Jes Olesen, and Michael B. Russell
Neurology 2003; 60: 595-601. [Abstract] [Full text] [PDF]  

ARTICLES
The pentapeptide QYNAD does not block voltage-gated sodium channels
T.R. Cummins, M. Renganathan, P.K. Stys, R.I. Herzog, K. Scarfo, R. Horn, S.D. Dib-Hajj, and S.G. Waxman
Neurology 2003; 60: 224-229. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization
Y. Péréon, G. Lande, S. Demolombe, S. Nguyen The Tich, D. Sternberg, H. Le Marec, and A. David
Neurology 2003; 60: 340-342. [Abstract] [Full text] [PDF]  

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* Related collections:
 Genetics
 All Genetics
 Neurofibromatosis
 Other neurocutaneous disorders
 Genetic linkage
 Association studies in genetics
 Gene expression studies
 Gene therapy
 Mitochondrial disorders
 Ion channel gene defects
 Spinocerebellar ataxia
 Trinucleotide repeat diseases
 Chromosomes


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