Bianca Berghuis

Bianca Berghuis

UNVERIFIED PROFILE

Are you Bianca Berghuis?   Register this Author

Register author
Bianca Berghuis

Bianca Berghuis

Publications by authors named "Bianca Berghuis"

Are you Bianca Berghuis?   Register this Author

11Publications

505Reads

26Profile Views

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
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.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0060-2
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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,

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
November 2003