Rhys H Thomas

Rhys H Thomas

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Rhys H Thomas

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Learnings from deaths - the Epilepsy Deaths Register.

Epilepsy Behav 2020 Feb 17;103(Pt B):106454. Epub 2019 Aug 17.

SUDEP Action, 18 Newbury Street, Wantage OX12 8DA, United Kingdom.

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http://dx.doi.org/10.1016/j.yebeh.2019.106454DOI Listing
February 2020

A tiered strategy for investigating status epilepticus.

Seizure 2020 Feb 22;75:165-173. Epub 2019 Oct 22.

Royal Victoria Infirmary, Newcastle-upon-Tyne, UK; Institute of Neuroscience, Newcastle University, UK. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.10.004DOI Listing
February 2020

The view of the clinician and the scientist on the family experience of sudden epilepsy deaths.

Epilepsy Behav 2020 Feb 9;103(Pt B):106679. Epub 2019 Dec 9.

University of Glasgow, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.106679DOI Listing
February 2020

The mitochondrial epilepsies.

Eur J Paediatr Neurol 2020 Jan 7. Epub 2020 Jan 7.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle-Upon-Tyne, NE2 4HH, United Kingdom; Department of Neurology, Royal Victoria Infirmary, Queen Victoria Rd, Newcastle-Upon-Tyne, NE1 4LP, United Kingdom; Institute of Neuroscience, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne, NE2 4HH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.12.021DOI Listing
January 2020

Clinicians embracing social media: Potential and pitfalls.

Epilepsy Behav 2019 Nov 12:106462. Epub 2019 Nov 12.

Institute of Neuroscience, Newcastle University, United Kingdom of Great Britain and Northern Ireland; Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom of Great Britain and Northern Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.106462DOI Listing
November 2019

Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.

Pract Neurol 2019 Oct 26;19(5):420-423. Epub 2019 Jun 26.

Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1136/practneurol-2019-002236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839726PMC
October 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Genetic chameleons: remember the relapsing disorders.

Pract Neurol 2019 08 4;19(4):282-283. Epub 2019 Apr 4.

Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1136/practneurol-2018-002181DOI Listing
August 2019

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders.

Epilepsia 2019 May 11;60(5):818-829. Epub 2019 Apr 11.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1111/epi.14722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519005PMC
May 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

Cannabis and epilepsy.

Pract Neurol 2018 Dec 18;18(6):465-471. Epub 2018 Oct 18.

School of Medicine, Discipline of Physiology, University of Dublin Trinity College, Dublin, Ireland.

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2018-002058
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http://dx.doi.org/10.1136/practneurol-2018-002058DOI Listing
December 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

Complement system biomarkers in epilepsy.

Seizure 2018 Aug 24;60:1-7. Epub 2018 May 24.

Systems Immunity Research Institute and Division of Psychological Medicine and Clinical Neurology, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.05.016DOI Listing
August 2018

Educational attainment of children born to mothers with epilepsy.

J Neurol Neurosurg Psychiatry 2018 07 27;89(7):736-740. Epub 2018 Mar 27.

Wales Epilepsy Research Network, Swansea University Medical School, Swansea University, Swansea, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317515DOI Listing
July 2018

Valproate: life-saving, life-changing.

Authors:
Rhys H Thomas

Clin Med (Lond) 2018 04;18(Suppl 2):s1-s8

Royal Victoria Infirmary and intermediate clinical lecturer, Newcastle University, Newcastle, UK.

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http://dx.doi.org/10.7861/clinmedicine.18-2-s1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334031PMC
April 2018

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Brain 2018 02;141(2):391-408

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

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https://academic.oup.com/brain/article/141/2/391/4818311
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http://dx.doi.org/10.1093/brain/awx341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837616PMC
February 2018

Epilepsy treatment priorities: answering the questions that matter.

J Neurol Neurosurg Psychiatry 2017 11 1;88(11):999-1001. Epub 2017 Jun 1.

Department of Neurology, University Hospital of Wales, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1136/jnnp-2016-315135DOI Listing
November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

On the road again: assessing driving ability in patients with neurological conditions.

Pract Neurol 2017 Jun 4;17(3):203-206. Epub 2017 May 4.

Department of Neurosciences, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001601DOI Listing
June 2017

Sudden death in epilepsy: Insights from the last 25 years.

Seizure 2017 Jan 14;44:232-236. Epub 2016 Oct 14.

Department of Neurology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, United Kingdom; Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2016.10.002DOI Listing
January 2017

What can rare variant genetics tell us about cognition and intellectual difficulties?

J Neurol 2016 Dec;263(12):2565-2566

Institute of Psychological Medicine and Clinical, Neurosciences Cardiff University, Cardiff, CF14 4XW, UK.

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http://dx.doi.org/10.1007/s00415-016-8326-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110588PMC
December 2016

The consequences of valproate exposure in utero.

J Neurol 2016 Sep;263(9):1887-9

Institute of Psychological Medicine and Clinical Neuroscience, University Hospital of Wales, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1007/s00415-016-8269-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010822PMC
September 2016

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Mol Syndromol 2016 Sep 24;7(4):239-246. Epub 2016 Aug 24.

Institute of Human Genetics, University Hospital and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1159/000448445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073659PMC
September 2016

Epilepsy and bipolar disorder.

Epilepsy Behav 2015 Nov 25;52(Pt A):267-74. Epub 2015 Aug 25.

MRC Centre for Neuropsychiatric Genetics and Genomics, Haydn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.07.003DOI Listing
November 2015

Hyperekplexia: overexcitable and underdiagnosed.

Authors:
Rhys H Thomas

Dev Med Child Neurol 2015 Apr 19;57(4):313. Epub 2014 Nov 19.

MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University School of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1111/dmcn.12638DOI Listing
April 2015

Epilepsy and deprivation, a data linkage study.

Epilepsia 2015 Apr 2;56(4):585-91. Epub 2015 Mar 2.

Wales Epilepsy Research Network, Neurology and Molecular Neuroscience Research Group, College of Medicine, Swansea University, Swansea, United Kingdom.

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http://dx.doi.org/10.1111/epi.12942DOI Listing
April 2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Neurology 2015 Mar 11;84(9):951-8. Epub 2015 Feb 11.

From the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000130
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http://dx.doi.org/10.1212/WNL.0000000000001305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351660PMC
March 2015

Epilepsy prevalence and socioeconomic deprivation in England.

Epilepsia 2014 Oct 2;55(10):1634-41. Epub 2014 Sep 2.

Morriston Hospital, Heol Maes Eglwys, Morriston, Swansea, United Kingdom.

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http://dx.doi.org/10.1111/epi.12763DOI Listing
October 2014

Novel auto-antibody syndromes.

J Neurol 2014 Oct;261(10):2043-5

Department of Neurology, Institute of Psychological Medicine, and Clinical Neuroscience, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1007/s00415-014-7497-2DOI Listing
October 2014

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy.

Expert Rev Neurother 2014 Jul 14;14(7):819-31. Epub 2014 Jun 14.

Department of Clinical and Experimental Epilepsy, University College London - Institute of Neurology, 33 Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1586/14737175.2014.928203DOI Listing
July 2014

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy.

Epilepsy Behav 2014 Jul 2;36:124-9. Epub 2014 Jun 2.

Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea SA2 8PP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2014.04.027DOI Listing
July 2014

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy.

Epilepsy Behav 2014 Jun 13;35:72-7. Epub 2014 May 13.

Department of Clinical and Molecular Pharmacology, University of Liverpool, Liverpool, UK.

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http://dx.doi.org/10.1016/j.yebeh.2014.03.026DOI Listing
June 2014

The hidden genetics of epilepsy-a clinically important new paradigm.

Nat Rev Neurol 2014 May 15;10(5):283-92. Epub 2014 Apr 15.

Epilepsy Research Centre, Melbourne Brain Centre, Department of Medicine, Austin and Northern Health, 245 Burgundy Street, Heidelberg, Vic 3084, Australia.

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http://www.nature.com/articles/nrneurol.2014.62
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http://dx.doi.org/10.1038/nrneurol.2014.62DOI Listing
May 2014

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Neurobiol Dis 2014 Apr 7;64:131-141. Epub 2014 Jan 7.

Wales Epilepsy Research Network, Institute of Life Sciences, College of Medicine, Swansea University, Singleton Park, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1016/j.nbd.2013.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222744PMC
April 2014

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.

Seizure 2014 Jan 19;23(1):77-80. Epub 2013 Sep 19.

Neurology and Molecular Neuroscience Research Group, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK; Wales Epilepsy Research Network (WERN), Institute of Life Science, Swansea University, Swansea, UK.

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http://dx.doi.org/10.1016/j.seizure.2013.09.007DOI Listing
January 2014

The importance of the experiences of initial diagnosis and treatment failure when switching antiepileptic drugs.

Epilepsy Behav 2013 Dec 2;29(3):492-6. Epub 2013 Oct 2.

Alan Richens Unit, Wales Epilepsy Centre, University Hospital of Wales, Cardiff CF14 4XW, UK; Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, SA2 8PP, UK; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050130043
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http://dx.doi.org/10.1016/j.yebeh.2013.08.025DOI Listing
December 2013

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.

Adv Protein Chem Struct Biol 2012 ;89:27-63

Welsh Centre for Learning Disabilities, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1016/B978-0-12-394287-6.00002-1DOI Listing
November 2013

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.

Brain 2013 Oct 11;136(Pt 10):3085-95. Epub 2013 Sep 11.

1 Institute of Life Science, College of Medicine, Swansea University, SA2 8PP, UK.

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http://dx.doi.org/10.1093/brain/awt207DOI Listing
October 2013

Impulsive and episodic disorders of aggressive behaviour following traumatic brain injury.

Brain Inj 2013 ;27(3):253-61

Department of Psychology, School of Human Sciences, Swansea University, Singleton Park, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.3109/02699052.2012.743181DOI Listing
August 2013

Weight change associated with antiepileptic drugs.

J Neurol Neurosurg Psychiatry 2013 Jul 12;84(7):796-9. Epub 2012 Dec 12.

Neurology and Molecular Neuroscience Research Group, Institute of Life Science, College of Medicine, Swansea University, 3rd Floor, ILS, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1136/jnnp-2012-303688DOI Listing
July 2013

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

Epilepsy Behav 2013 Mar 23;26(3):241-6. Epub 2012 Oct 23.

Wales Epilepsy Research Network, Institute of Life Science, College of Medicine, Swansea University, SA2 8PP, UK.

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http://dx.doi.org/10.1016/j.yebeh.2012.09.006DOI Listing
March 2013

A neurological presentation of intravascular B-cell lymphoma.

BMJ Case Rep 2012 Aug 2;2012. Epub 2012 Aug 2.

Department of Psychological Medicine and Neurology, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1136/bcr-2012-006439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544438PMC
August 2012

Epilepsy is different.

J R Soc Med 2011 Apr;104(4):141-3

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http://dx.doi.org/10.1258/jrsm.2011.100412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078616PMC
April 2011

Implications for families of advances in understanding the genetic basis of epilepsy.

Seizure 2010 Dec 20;19(10):675-9. Epub 2010 Nov 20.

Institute of Life Sciences, School of Medicine, Swansea University, SA2 8PP, UK.

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http://dx.doi.org/10.1016/j.seizure.2010.10.022DOI Listing
December 2010

The dark night.

Pract Neurol 2010 Oct;10(5):290-4

Cardiff University School of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1136/jnnp.2010.224113DOI Listing
October 2010

Epilepsy: creative sparks.

Pract Neurol 2010 Aug;10(4):219-26

Wales Epilepsy Research Network, Institute of Life Sciences, Swansea University, Swansea, UK.

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http://dx.doi.org/10.1136/jnnp.2010.217984DOI Listing
August 2010

Reversible grasp reflexes in normal pressure hydrocephalus.

Clin Neurol Neurosurg 2009 May 30;111(4):387-9. Epub 2008 Dec 30.

Wales Epilepsy Research Network, Institute of Life Sciences, Singleton Park, Swansea University, SA2 8PP, UK.

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http://dx.doi.org/10.1016/j.clineuro.2008.11.012DOI Listing
May 2009

Stress fracture of the fifth metatarsal base caused by tension band wiring: an isolated case report.

Foot Ankle Spec 2009 Apr;2(2):79-82

University Hospital of Wales, Heath, Cardiff, United Kingdom.

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http://dx.doi.org/10.1177/1938640009332514DOI Listing
April 2009

Current trends in thromboprophylaxis in surgery of the foot and ankle.

Foot Ankle Int 2007 Oct;28(10):1069-73

Department of Orthopaedics, University Hospital of Wales, Cardiff, Wales, UK.

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http://dx.doi.org/10.3113/FAI.2007.1069DOI Listing
October 2007

A triplane fracture of the distal tibia complicated by dislocation of the fibula.

Foot Ankle Int 2007 Apr;28(4):516-9

Department of Trauma and Orthopaedics, University Hospital of Wales, Heath Park, Cardiff, Wales CF14 4XN, United Kingdom.

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http://dx.doi.org/10.3113/FAI.2007.0516DOI Listing
April 2007

Ankle arthritis.

J Bone Joint Surg Am 2003 May;85(5):923-36

St. Michael's Hospital and University of Toronto, ON, Canada.

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http://dx.doi.org/10.2106/00004623-200305000-00026DOI Listing
May 2003

Primary fusion as salvage following talar neck fracture: a case report.

Foot Ankle Int 2003 Apr;24(4):368-71

St. Michael's Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/107110070302400412DOI Listing
April 2003