Publications by authors named "Bianca Berghuis"

11Publications

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608233PMC
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608347PMC
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.

Epilepsia 2017 07 24;58(7):1227-1233. Epub 2017 May 24.

Stichting Epilepsie Instellingen Nederland (SEIN), Zwolle, The Netherlands.

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http://dx.doi.org/10.1111/epi.13777DOI Listing
July 2017

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

Epilepsy Res 2015 Sep 15;115:141-4. Epub 2015 Jun 15.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.06.007DOI Listing
September 2015

SMART syndrome: a late reversible complication after radiation therapy for brain tumours.

J Neurol 2011 Jun 4;258(6):1098-104. Epub 2011 Mar 4.

Department of Neurology, Medical Centre Haaglanden, Postbus 432, 2501 CK, The Hague, The Netherlands,

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http://dx.doi.org/10.1007/s00415-010-5892-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101343PMC
June 2011

Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.

Blood Cells Mol Dis 2002 Nov-Dec;29(3):439-43

Genetic-Epidemiology Unit, Department of Epidemiology & Biostatistics, Erasmus Medical Centre, 3000 DR Rotterdam, The Netherlands.

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http://dx.doi.org/10.1006/bcmd.2002.0581DOI Listing
November 2003