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Selected Works of Russell Buono
Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Department of Neurology Faculty Papers
  • Dalia Kasperaviciute, NIHR University College London Hospitals
  • Claudia B Catarino, NIHR University College London Hospitals
  • Mar Matarin, NIHR University College London Hospitals
  • Costin Leu, NIHR University College London Hospitals
  • Jan Novy, NIHR University College London Hospitals
  • Anna Tostevin, NIHR University College London Hospitals
  • Bárbara Leal, University of Porto
  • Ellen V S Hessel, University Medical Centre Utrecht
  • Kerstin Hallmann, University of Bonn
  • Michael S Hildebrand, University of Melbourne
  • Hans-Henrik M Dahl, University of Melbourne
  • Mina Ryten, UCL Institute of Neurology, London,
  • Daniah Trabzuni, UCL Institute of Neurology, London,
  • Adaikalavan Ramasamy, UCL Institute of Neurology, London,
  • Saud Alhusaini, Royal College of Surgeons in Ireland
  • Colin P Doherty, St James’ Hospital, Dublin
  • Thomas Dorn, Swiss Epilepsy Centre
  • Jörg Hansen, Swiss Epilepsy Centre
  • Günter Krämer, Swiss Epilepsy Centre
  • Bernhard J Steinhoff, Kork Epilepsy Centre
  • Dominik Zumsteg, , University Hospital Zurich
  • Susan Duncan, Edinburgh and South East Scotland Epilepsy Service
  • Reetta K Kälviäinen, Kuopio Epilepsy Centre, Kuopio University Hospital
  • Kai J Eriksson, Paediatric Neurology Unit, Tampere University Hospital and Paediatric Research Centre
  • Anne-Mari Kantanen, Kuopio Epilepsy Centre, Kuopio University Hospital
  • Massimo Pandolfo, Hoˆpital Erasme, Universite´ Libre de Bruxelles
  • Ursula Gruber-Sedlmayr, Medical University of Graz, 8036 Graz, Austria
  • Kurt Schlachter, Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria
  • Eva M Reinthaler, Medical University of Vienna
  • Elisabeth Stogmann, Medical University of Vienna
  • Fritz Zimprich, Medical University of Vienna
  • Emilie Théâtre, University of Lie`ge, 4000 Lie`ge, Belgium
  • Colin Smith, University of Edinburgh, Wilkie Building, Edinburgh
  • Terence J O'Brien, Royal Melbourne Hospital, University of Melbourne
  • K Meng Tan, Royal Melbourne Hospital, University of Melbourne
  • Slave Petrovski, Royal Melbourne Hospital, University of Melbourne
  • Angela Robbiano, University of Genoa
  • Roberta Paravidino, University of Genoa
  • Federico Zara, University of Genoa
  • Pasquale Striano, University of Genoa
  • Michael R Sperling, Thomas Jefferson University
  • Russell J Buono, Cooper Medical School of Rowan University
  • Hakon Hakonarson, The Children’s Hospital of Philadelphia
  • João Chaves, Hospital Santo António / Centro Hospitalar do Porto, 4099-001 Porto, Portugal
  • Paulo P Costa, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA), 4049-019 Porto, Portugal
  • Berta M Silva, Immunogenetics Laboratory, University of Porto, 4050-313 Porto, Portugal
  • António M da Silva, Hospital Santo António / Centro Hospitalar do Porto, 4099-001 Porto, Portugal
  • Pierre N E de Graan, Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands
  • Bobby P C Koeleman, Department of Medical Genetics, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands
  • Albert Becker, Department of Neuropathology, University of Bonn, 53105 Bonn, Germany
  • Susanne Schoch, Department of Neuropathology, University of Bonn, 53105 Bonn, Germany
  • Marec von Lehe, Department of Neurosurgery, University of Bochum, 44892 Bochum, Germany
  • Philipp S Reif, Epilepsy-Centre Hessen, Department of Neurology, University Hospitals and Philipps-University Marburg, 35043 Marburg, Germany
  • Felix Rosenow, Epilepsy-Centre Hessen, Department of Neurology, University Hospitals and Philipps-University Marburg, 35043 Marburg, Germany
  • Felicitas Becker, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany
  • Yvonne Weber, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany
  • Holger Lerche, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany
  • Karl Rössler, Department of Neurosurgery, University Hospital Erlangen, 91054 Erlangen, Germany
  • Michael Buchfelder, Department of Neurosurgery, University Hospital Erlangen, 91054 Erlangen, Germany
  • Hajo M Hamer, Department of Neurology, Epilepsy Centre, University Hospital Erlangen, 91054 Erlangen, Germany
  • Katja Kobow, Department of Neuropathology, University Hospital Erlangen, 91054 Erlangen, Germany
  • Roland Coras, Department of Neuropathology, University Hospital Erlangen, 91054 Erlangen, Germany
  • Ingmar Blumcke, Department of Neuropathology, University Hospital Erlangen, 91054 Erlangen, Germany
  • Ingrid E Scheffer, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne VIC 3052, Australia
  • Samuel F Berkovic, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne VIC 3084, Australia
  • Michael E. Weale, Department of Medical and Molecular Genetics, King’s College London, Guy's Hospital, London, SE1 9RT, UK
  • UK Brain Expression Consortium, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK
  • Norman Delanty, Molecular and Cellular Therapeutics Department, Royal College of Surgeons in Ireland, Dublin 2, Ireland
  • Chantal Depondt, Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium
  • Gianpiero L Cavalleri, Molecular and Cellular Therapeutics Department, Royal College of Surgeons in Ireland, Dublin 2, Ireland
  • Wolfram S Kunz, Department of Epileptology, University of Bonn, 53105 Bonn, Germany
  • Sanjay M Sisodiya, NIHR University College London Hospitals
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Document Type
Article
Publication Date
10-1-2013
Disciplines
Comments

This article has been peer reviewed. It was published in Brain.

Volume 136, Issue 10, October 2013, Pages 3140-3150.

The published version is available at DOI:10.1093/brain/awt233 . Copyright © Oxford

Abstract

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizures.

PubMed ID
24014518
Citation Information
Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, et al.. "Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A." (2013)
Available at: http://works.bepress.com/russel-buono/25/