Journal article
Clinical and genetic analysis of a family with two rare reflex epilepsies
DGA Kasteleijn-Nolst Trenité, L Volkers, E Strengman, HM Schippers, W Perquin, GJ De Haan, AO Gkountidi, RVT Slot, SF De Graaf, B Jocic-Jakubi, G Capovilla, A Covanis, P Parisi, P Veggiotti, M Brinciotti, G Incorpora, M Piccioli, L Cantonetti, SF Berkovic, IE Scheffer Show all
Seizure | 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 found ..
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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.