Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
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Published:2014-11-02
Issue:12
Volume:46
Page:1327-1332
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Schubert Julian, , Siekierska Aleksandra, Langlois Mélanie, May PatrickORCID, Huneau Clément, Becker Felicitas, Muhle Hiltrud, Suls Arvid, Lemke Johannes R, de Kovel Carolien G FORCID, 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 StephanieORCID, Møller Rikke S, Hjalgrim Helle, Koeleman Bobby P C, Jurkat-Rott Karin, Lehmann-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
Publisher
Springer Science and Business Media LLC
Reference44 articles.
1. Berg, A.T., Jallon, P. & Preux, P.M. The epidemiology of seizure disorders in infancy and childhood: definitions and classifications. Handb. Clin. Neurol. 111, 391–398 (2013). 2. Eckhaus, J. et al. Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Res. 105, 103–109 (2013). 3. Escayg, A. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24, 343–345 (2000). 4. Wallace, R.H. et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nat. Genet. 19, 366–370 (1998). 5. Wallace, R.H. et al. Mutant GABA(A) receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28, 49–52 (2001).
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