Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three-generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

Autor:	Kasteleijn Nolst Trenité, D., Schippers, H., Perquin, W., de Haan, G., de Kovel, C., Capovilla, G., Jocic Jakubi, B., Covanis, T., Brinciotti, Mario, Baykan, B., Parisi, Pasquale, Brilstra, E., Bader, A., Koeleman, B.
Jazyk:	angličtina
Rok vydání:	2013
Předmět:	SCNM1 mutation Photosensitivity Epilepsy phenotypes
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od______3686::d8ab5efdbe7eb7f686da86c9766c54fe http://hdl.handle.net/11573/519128 Zobrazit plný text záznamu