Ion channel gene defects

Citations 1-10 of 85 total displayed.

Most recent content (18 Nov 2008):

ARTICLES
A novel dominant mutation of the Na_v1.4 -subunit domain I leading to sodium channel myotonia

S. Petitprez, L. Tiab, L. Chen, L. Kappeler, K. M. Rösler, D. Schorderet, H. Abriel, and J-M Burgunder
Neurology 2008; 71: 1669-1675. [Abstract] [Full text] [PDF]  

Past content (since Aug 2001):

ARTICLES
Reduced striatal D₁ receptor binding in autosomal dominant nocturnal frontal lobe epilepsy

M. Fedi, S. F. Berkovic, I. E. Scheffer, G. O’Keefe, C. Marini, R. Mulligan, S. Gong, H. Tochon-Danguy, and D. C. Reutens
Neurology 2008; 71: 795-798. [Abstract] [Full text] [PDF]  

ARTICLES
Calcitonin gene–related peptide does not cause the familial hemiplegic migraine phenotype

Jakob Møller Hansen, Lise Lykke Thomsen, Jes Olesen, and Messoud Ashina
Neurology 2008; 71: 841-847. [Abstract] [Full text] [PDF]  

EDITORIALS
Yet another spinocerebellar ataxia: The saga continues

O. Bandmann and A. B. Singleton
Neurology 2008; 71: 542-543. [Full text] [PDF]  

ARTICLES
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

K. Hara, A. Shiga, H. Nozaki, J. Mitsui, Y. Takahashi, H. Ishiguro, H. Yomono, H. Kurisaki, J. Goto, T. Ikeuchi, S. Tsuji, M. Nishizawa, and O. Onodera
Neurology 2008; 71: 547-551. [Abstract] [Full text] [PDF]  

ARTICLES
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

B. A. Neubauer, S. Waldegger, J. Heinzinger, A. Hahn, G. Kurlemann, B. Fiedler, F. Eberhard, H. Muhle, U. Stephani, S. Garkisch, O. Eeg-Olofsson, U. Müller, and T. Sander
Neurology 2008; 71: 177-183. [Abstract] [Full text] [PDF]  

ARTICLES
What causes paramyotonia in the United Kingdom?: Common and new SCN4A mutations revealed

E. Matthews, S. V. Tan, D. Fialho, M. G. Sweeney, R. Sud, A. Haworth, E. Stanley, G. Cea, M. B. Davis, and M. G. Hanna
Neurology 2008; 70: 50-53. [Abstract] [Full text] [PDF]  

ARTICLES
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine

B. de Vries, T. Freilinger, K.R.J. Vanmolkot, J. B. Koenderink, A. H. Stam, G. M. Terwindt, E. Babini, E. H. van den Boogerd, J. J.M.W. van den Heuvel, R. R. Frants, J. Haan, M. Pusch, A. M.J.M. van den Maagdenberg, M. D. Ferrari, and M. Dichgans
Neurology 2007; 69: 2170-2176. [Abstract] [Full text] [PDF]  

ARTICLES
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

T. V. Wuttke, K. Jurkat-Rott, W. Paulus, M. Garncarek, F. Lehmann-Horn, and H. Lerche
Neurology 2007; 69: 2045-2053. [Abstract] [Full text] [PDF]  

ARTICLES
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

E. Rossignol, J. Mathieu, I. Thiffault, M. Tétreault, M. -J. Dicaire, N. Chrestian, N. Dupré, J. Puymirat, and B. Brais
Neurology 2007; 69: 1937-1941. [Abstract] [Full text] [PDF]  

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