Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
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Author / Creator
EuroEPINOMICS RES Consortium , 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 , 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 and Lerche, Holger
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Holger Lerche, Camila Esguerra and colleagues report the identification of inactivating mutations in
STX1B
in individuals with various seizure-related disorders, including febrile seizures and epilepsy. Functional studies indicate that STX1B acts in the presynaptic release machinery.
Febrile seizures affect 2–4% of all children
1
and...
Alternative Titles
Full title
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Authors, Artists and Contributors
Author / Creator
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
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01615594v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01615594v1
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3130
