Faculty Opinions recommendation of A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

2013 ◽  
Author(s):  
Jeffrey Noebels ◽  
Tara Klassen
Keyword(s):  
Sodium Channel ◽  
Dravet Syndrome ◽  
Homozygous Mutation ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
I Gene

scholarly journals A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome

Epilepsia ◽  
2012 ◽  
Vol 53 (12) ◽  
pp. e200-e203 ◽  
Author(s):  
Ikuo Ogiwara ◽  
Tojo Nakayama ◽  
Tetsushi Yamagata ◽  
Hideyuki Ohtani ◽  
Emi Mazaki ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Dravet Syndrome ◽  
Homozygous Mutation ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated

The Voltage-Gated Sodium Channel Nav1.2 Contributes to Neurodegeneration in an Animal Model of Multiple Sclerosis

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
W. Fazeli ◽  
B. Schattling ◽  
B. Engeland ◽  
M. Friese ◽  
D. Isbrand
Keyword(s):  
Multiple Sclerosis ◽  
Animal Model ◽  
Sodium Channel ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function

Epilepsia ◽  
2021 ◽  
Author(s):  
Marcello Scala ◽  
Stephanie Efthymiou ◽  
Tipu Sultan ◽  
Jolien De Waele ◽  
Marta Panciroli ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epileptic Encephalopathy ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Channel Function

Neonatal Na V 1.5: Pharmacological distinctiveness of a cancer‐related voltage‐gated sodium channel splice variant

2021 ◽  
Author(s):  
Scott P. Fraser ◽  
Rustem Onkal ◽  
Margaux Theys ◽  
Frank Bosmans ◽  
Mustafa B. A. Djamgoz
Keyword(s):  
Sodium Channel ◽  
Splice Variant ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated
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