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Aleksandra Siekierska
Researcher at Katholieke Universiteit Leuven
Publications - 23
Citations - 967
Aleksandra Siekierska is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Epilepsy & Zebrafish. The author has an hindex of 13, co-authored 19 publications receiving 746 citations. Previous affiliations of Aleksandra Siekierska include Flanders Institute for Biotechnology & Vrije Universiteit Brussel.
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Journal ArticleDOI
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Julian Schubert,Aleksandra Siekierska,Mélanie Langlois,Patrick May,Clément Huneau,Felicitas Becker,Hiltrud Muhle,Arvid Suls,Johannes R. Lemke,Carolien G.F. de Kovel,Holger Thiele,Kathryn Konrad,Amit Kawalia,Mohammad R. Toliat,Thomas Sander,Franz Rüschendorf,Almuth Caliebe,Inga Nagel,Bernard Kohl,Angela Kecskés,Maxime Jacmin,Katia Hardies,Sarah Weckhuysen,Erik Riesch,Thomas Dorn,Eva H. Brilstra,Stéphanie Baulac,Rikke S. Møller,Helle Hjalgrim,Bobby P. C. Koeleman,Karin Jurkat-Rott,Frank Lehman-Horn,Jared C. Roach,Gustavo Glusman,Leroy Hood,David J. Galas,Benoit Martin,Peter de Witte,Saskia Biskup,Peter De Jonghe,Ingo Helbig,Rudi Balling,Peter Nürnberg,Alexander D. Crawford,Camila V. Esguerra,Yvonne G. Weber,Holger Lerche +46 more
TL;DR: The results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.
Journal ArticleDOI
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
Arvid Suls,Johanna A. Jaehn,Angela Kecskés,Yvonne G. Weber,Sarah Weckhuysen,Dana Craiu,Aleksandra Siekierska,Tania Djémié,Tatiana Afrikanova,Padhraig Gormley,Sarah von Spiczak,Gerhard Kluger,Catrinel Iliescu,Tiina Talvik,Tiina Talvik,Inga Talvik,Inga Talvik,Cihan Meral,Hande Caglayan,Beatriz G. Giráldez,José M. Serratosa,Johannes R. Lemke,Dorota Hoffman-Zacharska,Elżbieta Szczepanik,Nina Barišić,Vladimir Komarek,Helle Hjalgrim,Rikke S. Møller,Tarja Linnankivi,Petia Dimova,Pasquale Striano,Federico Zara,Carla Marini,Renzo Guerrini,Christel Depienne,Christel Depienne,Stéphanie Baulac,Stéphanie Baulac,Stéphanie Baulac,Gregor Kuhlenbäumer,Alexander D. Crawford,Alexander D. Crawford,Anna-Elina Lehesjoki,Peter de Witte,Aarno Palotie,Aarno Palotie,Aarno Palotie,Holger Lerche,Camila V. Esguerra,Peter De Jonghe,Ingo Helbig,Rik Hendrickx,Philip Holmgren,Ulrich Stephani,Hiltrud Muhle,Manuela Pendiziwiat,Silke Appenzeller,Kaja Kristine Selmer,Eva H. Brilstra,Bobby P. C. Koeleman,Felix Rosenow,Eric LeGuern,Katalin Sterbova,Budisteanu Magdalena,Gherghiceanu Rodica,Oana Tarta Arsene,Barca Diana,Rosa Guerrero-López,Laura Ortega,Albena Todorova,Andrey Kirov,Angela Robbiano,Mutluay Arslan,Uluç Yiş,Vanja Ivanović +74 more
TL;DR: This study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
Journal Article
De novo loss-of-function mutations in chd2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome
Arvid Suls,J. J Jaehn,Angela Kecskés,Yvonne G. Weber,Sarah Weckhuysen,Dana Craiu,Aleksandra Siekierska,Tania Djémié,Tatiana Afrikanova,Padhraig Gormley,S. von Spiczak,Gerhard Kluger,Catrinel Iliescu,Tiina Talvik,Inga Talvik,C Meral,Hande Caglayan,Beatriz G. Giráldez,Jose Serratosa,Johannes R. Lemke,Dorota Hoffman-Zacharska,Elżbieta Szczepanik,Nina Barišić,Komarek,H. Hjalgrim,Rikke S. Møller,Tarja Linnankivi,Petia Dimova,Pasquale Striano,Federico Zara,Carla Marini,Renzo Guerrini,Christel Depienne,Stéphanie Baulac,G Kuhlenbaeumer,Alexander D. Crawford,A E Lehesjoki,Peter de Witte,Aarno Palotie,Holger Lerche,Camila V. Esguerra,P. De Jonghe,Ingo Helbig +42 more
Journal ArticleDOI
Structural hot spots for the solubility of globular proteins
Ashok Ganesan,Ashok Ganesan,Aleksandra Siekierska,Aleksandra Siekierska,Jacinte Beerten,Jacinte Beerten,Jacinte Beerten,Marijke Brams,Joost Van Durme,Joost Van Durme,Greet De Baets,Greet De Baets,Rob van der Kant,Rob van der Kant,Rodrigo Gallardo,Rodrigo Gallardo,Meine Ramakers,Meine Ramakers,Tobias Langenberg,Tobias Langenberg,Hannah Wilkinson,Hannah Wilkinson,Frederik De Smet,Frederik De Smet,Chris Ulens,Frederic Rousseau,Frederic Rousseau,Joost Schymkowitz,Joost Schymkowitz +28 more
TL;DR: It is shown that mutations at specific positions within a protein structure can act as APR suppressors without affecting protein stability, suggesting that mutational suppression of APRs provides a simple strategy to increase protein solubility.
Journal ArticleDOI
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
Aleksandra Siekierska,Mala Isrie,Yue Liu,Chloë Scheldeman,Niels Vanthillo,Lieven Lagae,Peter de Witte,Hilde Van Esch,Mitchell Goldfarb,Gunnar M. Buyse +9 more
TL;DR: The data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy.