Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies. Functional studies on the first described case demonstrated gain-of-function effects of the mutation. We describe a novel de novo mutation of SCN8A in a patient with epi...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Epilepsy Res
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2014
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4490185/
https://ncbi.nlm.nih.gov/pubmed/25239001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.eplepsyres.2014.08.020
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia