scholarly journals De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

2001 ◽  
Vol 68 (6) ◽  
pp. 1327-1332 ◽  
Author(s):  
Lieve Claes ◽  
Jurgen Del-Favero ◽  
Berten Ceulemans ◽  
Lieven Lagae ◽  
Christine Van Broeckhoven ◽  
...  
Keyword(s):  
Sodium Channel ◽  
De Novo ◽  
Myoclonic Epilepsy ◽  
De Novo Mutations ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

2006 ◽  
Vol 5 (6) ◽  
pp. 488-492 ◽  
Author(s):  
Samuel F Berkovic ◽  
Louise Harkin ◽  
Jacinta M McMahon ◽  
James T Pelekanos ◽  
Sameer M Zuberi ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Sodium Channel ◽  
De Novo ◽  
De Novo Mutations ◽  
Channel Gene ◽  
Sodium Channel Gene

Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy

2006 ◽  
Vol 34 (2) ◽  
pp. 116-120 ◽  
Author(s):  
Jennifer A. Kearney ◽  
Anna K. Wiste ◽  
Ulrich Stephani ◽  
Michelle M. Trudeau ◽  
Anne Siegel ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Epilepsy ◽  
De Novo Mutations ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

scholarly journals The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

2007 ◽  
Vol 16 (23) ◽  
pp. 2892-2899 ◽  
Author(s):  
M. S. Martin ◽  
B. Tang ◽  
L. A. Papale ◽  
F. H. Yu ◽  
W. A. Catterall ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Genetic Modifier ◽  
Myoclonic Epilepsy ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel geneSCN1A

Epilepsia ◽  
2008 ◽  
Vol 49 (6) ◽  
pp. 1091-1094 ◽  
Author(s):  
Rikke S. Møller ◽  
Lizette M. Schneider ◽  
Christian P. Hansen ◽  
Merete Bugge ◽  
Reinhard Ullmann ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Myoclonic Epilepsy ◽  
Balanced Translocation ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

Sodium channel  1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Neurology ◽  
2003 ◽  
Vol 61 (6) ◽  
pp. 765-769 ◽  
Author(s):  
R. H. Wallace ◽  
B. L. Hodgson ◽  
B. E. Grinton ◽  
R. M. Gardiner ◽  
R. Robinson ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Infantile Spasms ◽  
Myoclonic Epilepsy ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy
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