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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