Ellen V S Hessel, Marina de Wit, Inge G Wolterink-Donselaar, Henk Karst, Esther de Graaff, Hein A van Lith, Ewart de Bruijn, Sophietje de Sonnaville, Nienke E Verbeek, Dick Lindhout, Carolien G F de Kovel, Bobby P C Koeleman, Marjan van Kempen, Eva Brilstra, Edwin Cuppen, Maarten Loos, Sabine S Spijker, Anne A Kan, Susanne E Baars, Peter C van Rijen, Peter H Gosselaar, Marian J A Groot Koerkamp, Frank C P Holstege, Cornelia van Duijn, Jeanette Vergeer, Henriette A Moll, Erik Taubøll, Kjell Heuser, Geert M J Ramakers, R Jeroen Pasterkamp, Onno van Nieuwenhuizen, Casper C Hoogenraad, Martien J H Kas, Pierre N E de Graan
OBJECTIVE: Febrile seizures (FS) are the most common seizure type in young children. Complex FS are a risk factor for mesial temporal lobe epilepsy (mTLE). To identify new FS susceptibility genes we used a forward genetic strategy in mice and subsequently analyzed candidate genes in humans. METHODS: We mapped a quantitative trait locus (QTL1) for hyperthermia-induced FS on mouse chromosome 1, containing the signal recognition particle 9 (Srp9) gene. Effects of differential Srp9 expression were assessed in vivo and in vitro...
April 2014: Annals of Clinical and Translational Neurology