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Kasteleijn-Nolst Trenité, Dorothée G.A; Volkers, Linda; Strengman, Eric; Schippers, Herman M; Perquin, Willem; de Haan, Gerrit-Jan; Gkountidi, Anastasia O; Slot, Ruben van’t; van de Graaf, Stan F; Jocic-Jakubi, Bosanka; Capovilla, Giuseppe; Covanis, Athanasios; Parisi, Pasquale; Veggiotti, Pierangelo; Brinciotti, Mario; Incorpora, Gemma; Piccioli, Marta; Cantonetti, Laura; Berkovic, Samuel F; Scheffer, Ingrid E; Brilstra, Eva H; Sonsma, Anja C.M; Bader, Adri J; de Kovel, Carolien G.F; Koeleman, Bobby P.C
Seizure (London, England), 07/2015, Letnik: 29Journal Article
Highlights • Four members of one family had visual sensitivity combined with talking induced myoclonic jerks. • Visual sensitivity increased around age fifty with onset of talking induced jaw jerks. • All photosensitive family members shared a heterozygous R129C mutation in the SCNM1 gene. • SCNM1 mutation might lead to increased susceptibility to PPR and epilepsy.
