Article
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
General physiology and biophysics - 1 Jul 2016
Surovy Milan, Soltysova Andrea, Kolnikova Miriam, Sykora Pavol, Ilencikova Denisa, Ficek Andrej, Radvanszky Jan, Kadasi Ludevit
Abstract excerpt
Voltage-gated sodium channels are essential for generation and propagation of the action potential mainly in nerve and muscle cells. Causative variants in SCN1A gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with Dravet syndrome (DS), as well as with generalized epilepsy with febrile seizures plus (GEFS+) making it one of the most...
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