Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Nature genetics - 1 Dec 2014
Schubert Julian, Siekierska Aleksandra, Langlois Mélanie, May Patrick, Huneau Clément, Becker Felicitas, Muhle Hiltrud, Suls Arvid, Lemke Johannes R, de Kovel Carolien G F, Thiele Holger, Konrad Kathryn, Kawalia Amit, Toliat Mohammad R, Sander Thomas, Rüschendorf Franz, Caliebe Almuth, Nagel Inga, Kohl Bernard, Kecskés Angela, Jacmin Maxime, Hardies Katia, Weckhuysen Sarah, Riesch Erik, Dorn Thomas, Brilstra Eva H, Baulac Stephanie, Møller Rikke S, Hjalgrim Helle, Koeleman Bobby P C, Jurkat-Rott Karin, Lehman-Horn Frank, Roach Jared C, Glusman Gustavo, Hood Leroy, Galas David J, Martin Benoit, de Witte Peter A M, Biskup Saskia, De Jonghe Peter, Helbig Ingo, Balling Rudi, Nürnberg Peter, Crawford Alexander D, Esguerra Camila V, Weber Yvonne G, Lerche Holger
Abstract excerpt
Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees...
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