Ion channel gene defects

Citations 1-10 of 93 total displayed.

Most recent content (13 Oct 2009):

ARTICLES
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

H. Kurahashi, J. -w. Wang, A. Ishii, T. Kojima, S. Wakai, T. Kizawa, Y. Fujimoto, K. Kikkawa, K. Yoshimura, T. Inoue, S. Yasumoto, A. Ogawa, S. Kaneko, and S. Hirose
Neurology 2009; 73: 1214-1217. [Abstract] [Full text] [PDF]  

Past content (since Aug 2001):

RESIDENT AND FELLOW SECTION
Child Neurology: Dravet syndrome: When to suspect the diagnosis

John J. Millichap, Sookyong Koh, Linda C. Laux, and Douglas R. Nordli, Jr
Neurology 2009; 73: e59-62e. [Abstract] [Full text] [PDF]  

ARTICLES
De novo mutations of voltage-gated sodium channel _II gene SCN2A in intractable epilepsies

I. Ogiwara, K. Ito, Y. Sawaishi, H. Osaka, E. Mazaki, I. Inoue, M. Montal, T. Hashikawa, T. Shike, T. Fujiwara, Y. Inoue, M. Kaneda, and K. Yamakawa
Neurology 2009; 73: 1046-1053. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

S. Rajakulendran, S. V. Tan, E. Matthews, S. E. Tomlinson, R. Labrum, R. Sud, D. M. Kullmann, S. Schorge, and M. G. Hanna
Neurology 2009; 73: 993-995. [Full text] [PDF]  

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]  

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]  

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