Kate Everett

Kate Everett

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Kate Everett

Kate Everett

Publications by authors named "Kate Everett"

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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

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.

J Neurol Sci 2016 Apr 2;363:240-4. Epub 2016 Mar 2.

Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.02.063DOI Listing
April 2016

Analysis of rare copy number variation in absence epilepsies.

Neurol Genet 2016 Apr 22;2(2):e56. Epub 2016 Mar 22.

Department of Basic and Clinical Neuroscience (L.A., R.E.R., A.V., A.M., D.K.P.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, United Kingdom; Neuroscience Discovery Research (L.A.), Eli Lilly and Company, Erl Wood, Surrey, United Kingdom; Wellcome Trust Centre for Neuroimaging (R.E.R.), Institute of Neurology, University College London, United Kingdom; Department of Clinical Neurophysiology (A.V.), Department of Neurology (L.N.), and Department of Child Health (D.K.P.), King's College Hospital, United Kingdom; Department of Paediatric Neurology (R.R.), Great Ormond Street Hospital, London, United Kingdom; and St George's University of London (K.V.E.), Cranmer Terrace, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830185PMC
April 2016

Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

J Hum Genet 2013 Apr 21;58(4):236-7. Epub 2013 Feb 21.

Human Genetics Research Centre, Division of Biomedical Sciences, St George's University of London, London, UK.

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http://www.nature.com/articles/jhg201310
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http://dx.doi.org/10.1038/jhg.2013.10DOI Listing
April 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Transient receptor potential genes and human inherited disease.

Authors:
Kate V Everett

Adv Exp Med Biol 2011 ;704:1011-32

St. George's University of London, London, UK.

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http://dx.doi.org/10.1007/978-94-007-0265-3_52DOI Listing
July 2011

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Eur J Hum Genet 2008 Sep 14;16(9):1151-4. Epub 2008 May 14.

University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2008.86DOI Listing
September 2008

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.

Epilepsy Res 2007 Jul 18;75(2-3):145-53. Epub 2007 Jun 18.

General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute Child Health, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.05.004DOI Listing
July 2007

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Epilepsy Res 2006 May 28;69(2):177-81. Epub 2006 Feb 28.

Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK.

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http://dx.doi.org/10.1016/j.eplepsyres.2006.01.009DOI Listing
May 2006