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Por de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., van ‘t Slot, Ruben, van Lieshout, Stef, Nijman, Isaac J, O'Brien, Janelle E., Hammer, Michael F., Estacion, Mark, Waxman, Stephen G., Dib-Hajj, Sulayman D., Koeleman, Bobby P.C.
Publicado no Epilepsy Res (2014)
“...OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause...”Publicado no Epilepsy Res (2014)
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Por Van Norstrand, David W., Asimaki, Angeliki, Rubinos, Clio, Dolmatova, Elena, Srinivas, Miduturu, Tester, David J., Saffitz, Jeffrey E., Duffy, Heather S., Ackerman, Michael J.
Publicado em 2011
“... white female, respectively. Analysis of the E42K victim’s parental DNA demonstrated a de novo mutation...”Publicado em 2011
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