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Sex-specific disease modifiers in juvenile myoclonic epilepsy

Shakeshaft A 1 , Panjwani N 2 , Collingwood A 1 , Crudgington H 1 , Hall A 1 , Andrade DM 3 Show all authors , Beier CP 4 , Fong CY 5 , Gardella E 6 , Gesche J 4 , Greenberg DA 7 , Hamandi K 8 , Koht J 9 , Lim KS 10 , Møller RS 6 , Ng CC 11 , Orsini A 12 , Rees MI 13 , Rubboli G 6 , Selmer KK 14 , Striano P 15 , Syvertsen M 16 , Thomas RH 17 , Zarubova J 18 , Richardson MP 1 , Strug LJ 19 , Pal DK 20

Affiliations 

  • 1 Department of Basic and Clinical Neurosciences, Maurice Wohl Clinical Neurosciences Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, UK
  • 2 Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada
  • 3 Adult Epilepsy Genetics Program, Krembil Research Institute, University of Toronto, Toronto, Canada
  • 4 Odense University Hospital, Odense, Denmark
  • 5 Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 6 Danish Epilepsy Centre, Dianalund, Denmark
  • 7 Nationwide Children's Hospital, Columbus, OH, USA
  • 8 Cardiff and Vale University Health Board, Cardiff, UK
  • 9 Department of Neurology, Oslo University Hospital, Oslo, Norway
  • 10 Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 11 Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia
  • 12 Department of Clinical and Experimental Medicine, Pisa University Hospital, Pisa, Italy
  • 13 Neurology Research Group, Swansea University Medical School, Swansea, UK
  • 14 Division of Clinical Neuroscience, Department of Research and Innovation, Oslo University Hospital, Oslo, Norway
  • 15 IRCCS Istituto 'G. Gaslini', Genoa, Italy
  • 16 Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Oslo, Norway
  • 17 Newcastle Upon Tyne NHS Foundation Trust, Newcastle, UK
  • 18 Department of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
  • 19 Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada. Lisa.Strug@utoronto.ca
  • 20 Department of Basic and Clinical Neurosciences, Maurice Wohl Clinical Neurosciences Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, UK. deb.pal@kcl.ac.uk
Sci Rep, 2022 Feb 21;12(1):2785.
PMID: 35190554 DOI: 10.1038/s41598-022-06324-2

Abstract

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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