Ion channel gene defects

Citations 21-30 of 93 total displayed.

Past content (since Aug 2001):

CLINICAL/SCIENTIFIC NOTES
MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

J. Kirby, C.A.A. Hewamadduma, J. A. Hartley, H. C. Nixon, H. Evans, R. R. Wadhwa, C. Kershaw, P. G. Ince, and P. J. Shaw
Neurology 2007; 68: 1951-1953. [Full text] [PDF]  

ARTICLES
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

D. Fischer, M. Herasse, A. Ferreiro, H. M. Barragán-Campos, J. Chiras, L. Viollet, S. Maugenre, J. -P. Leroy, N. Monnier, J. Lunardi, P. Guicheney, M. Fardeau, and N. B. Romero
Neurology 2006; 67: 2217-2220. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

E. Stogmann, P. Lichtner, C. Baumgartner, S. Bonelli, E. Assem-Hilger, F. Leutmezer, M. Schmied, C. Hotzy, T. M. Strom, T. Meitinger, F. Zimprich, and A. Zimprich
Neurology 2006; 67: 2029-2031. [Abstract] [Full text] [PDF]  

EDITORIALS
Inherited erythermalgia moves a sodium channel into focus

Stephanie Schorge and Louis J. Pácek
Neurology 2006; 67: 1538-1539. [Full text] [PDF]  

ARTICLES
Inherited erythermalgia: Limb pain from an S4 charge-neutral Na channelopathy

Jin-Sung Choi, Sulayman D. Dib-Hajj, and Stephen G. Waxman
Neurology 2006; 67: 1563-1567. [Abstract] [Full text] [PDF]  

ARTICLES
Muscle Na⁺ channelopathies: MRI detects intracellular ²³Na accumulation during episodic weakness

M. -A. Weber, S. Nielles-Vallespin, M. Essig, K. Jurkat-Rott, H. -U. Kauczor, and F. Lehmann-Horn
Neurology 2006; 67: 1151-1158. [Abstract] [Full text] [PDF]  

ARTICLES
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

F. Madia, P. Striano, E. Gennaro, M. Malacarne, R. Paravidino, R. Biancheri, M. Budetta, M. R. Cilio, R. Gaggero, M. Pierluigi, C. Minetti, and F. Zara
Neurology 2006; 67: 1230-1235. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

J. C. Mulley, P. Nelson, S. Guerrero, L. Dibbens, X. Iona, J. M. McMahon, L. Harkin, J. Schouten, S. Yu, S. F. Berkovic, and I. E. Scheffer
Neurology 2006; 67: 1094-1095. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel GABRG2 mutation associated with febrile seizures

D. Audenaert, E. Schwartz, K. G. Claeys, L. Claes, L. Deprez, A. Suls, T. Van Dyck, L. Lagae, C. Van Broeckhoven, R. L. Macdonald, and P. De Jonghe
Neurology 2006; 67: 687-690. [Abstract] [Full text] [PDF]  

NEUROIMAGES
Unilateral malignant hypertensive retinopathy

T. Umapathi and Swee-Ling Wong
Neurology 2006; 67: 690. [Full text] [PDF]  

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