Ion channel gene defects

Citations 1-10 of 89 total displayed.

Most recent content (5 May 2009):

ARTICLES
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

E. Matthews, R. Labrum, M. G. Sweeney, R. Sud, A. Haworth, P. F. Chinnery, G. Meola, S. Schorge, D. M. Kullmann, M. B. Davis, and M. G. Hanna
Neurology 2009; 72: 1544-1547. [Abstract] [Full text] [PDF]  

Past content (since Aug 2001):

ARTICLES
Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations

K. Vahedi, C. Depienne, D. Le Fort, F. Riant, P. Chaine, O. Trouillard, A. Gaudric, M. A. Morris, E. LeGuern, E. Tournier-Lasserve, and M-G Bousser
Neurology 2009; 72: 1178-1183. [Abstract] [Full text] [PDF]  

EDITORIALS
Seizures and arrhythmias: Differing phenotypes of a common channelopathy?

Jill V. Hunter and Arthur J. Moss
Neurology 2009; 72: 208-209. [Full text] [PDF]  

ARTICLES
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

J. N. Johnson, N. Hofman, C. M. Haglund, G. D. Cascino, A.A.M. Wilde, and M. J. Ackerman
Neurology 2009; 72: 224-231. [Abstract] [Full text] [PDF]  

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]  

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]  

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