Journal article
Clinical and genetic analysis of a family with two rare reflex epilepsies
Dorothee GA Kasteleijn-Nolst Trenite, Linda Volkers, Eric Strengman, Herman M Schippers, Willem Perquin, Gerrit-Jan de Haan, Anastasia O Gkountidi, Ruben van't Slot, Stan F de Graaf, Bosanka Jocic-Jakubi, Giuseppe Capovilla, Athanasios Covanis, Pasquale Parisi, Pierangelo Veggiotti, Mario Brinciotti, Gemma Incorpora, Marta Piccioli, Laura Cantonetti, Samuel F Berkovic, Ingrid E Scheffer Show all
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | W B SAUNDERS CO LTD | Published : 2015
Abstract
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 using photoparoxysmal EEG responses (PPRs) as affection status. RESULTS: The proband suffered from speaking induced jaw-jerks and increasing limb jerks evoked by flickering sunlight since about 50 years of age. Three of her family members had the same phenotype. Generalized PPRs were fou..
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Awarded by ZonMW Vidi
Awarded by NEF
Awarded by Marie Curie Grant on Visual Sensitivity
Awarded by FP6 EC program
Funding Acknowledgements
Marie Curie Grant on Visual Sensitivity MEXCT-CT-2005-024224; ZonMW Vidi grant 917.66.315; NEF grant 04-08; FP6 EC program LSH-CT-2006-037315, EPICURE.