Article
Clinical and genetic analysis of a family with two rare reflex epilepsies.
Seizure - 1 Jul 2015
Kasteleijn-Nolst Trenité Dorothée G A, Volkers Linda, Strengman Eric, Schippers Herman M, Perquin Willem, de Haan Gerrit-Jan, Gkountidi Anastasia O, van't Slot Ruben, van de Graaf Stan F, 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
Abstract excerpt
PURPOSE: To determine clinical phenotypes, evolution and genetic background of a large family with a combination of two unusual forms of reflex epilepsies. METHOD: Phenotyping was performed in eighteen family members (10 F, 8 M) including standardized EEG recordings with intermittent photic stimulation (IPS). Genetic analyses (linkage scans, Whole Exome Sequencing (WES) and Functional studies) were performed...
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