Antiepileptic drug teratogenicity and de novo genetic variation load,Annals of Neurology

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Antiepileptic drug teratogenicity and de novo genetic variation load
Annals of Neurology ( IF 8.1 ) Pub Date : 2020-04-15 , DOI: 10.1002/ana.25724
Piero Perucca _{1,

2,

3} , Alison Anderson _{1,

2} , Dana Jazayeri ₂ , Alison Hitchcock ₂ , Janet Graham ₂ , Marian Todaro ₂ , Torbjörn Tomson ₄ , Dina Battino ₅ , Emilio Perucca ₆ , Meritxell Martinez Ferri ₇ , Anne Rochtus ₈ , Lieven Lagae ₈ , Maria Paola Canevini _{9,

10} , Elena Zambrelli ₉ , Ellen Campbell ₁₁ , Bobby P C Koeleman ₁₂ , Ingrid E Scheffer _{13,

14} , Samuel F Berkovic ₁₃ , Patrick Kwan _{1,

2,

3} , Sanjay M Sisodiya _{15,

16} , David B Goldstein ₁₇ , Slavé Petrovski _{2,

18} , John Craig ₁₁ , Frank J E Vajda _{1,

2} , Terence J O'Brien _{1,

2,

3} ,

Affiliation

Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.
Departments of Medicine and Neurology, University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Department of Neurology, Alfred Health, Melbourne, Victoria, Australia.
Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
Epilepsy Center, Department of Neurophysiology and Experimental Epileptology, IRCCS Neurological Institute "Carlo Besta" Foundation, Milan, Italy.
Department of Internal Medicine and Therapeutics, University of Pavia, and Clinical Trial Center, IRCCS Mondino Foundation, Pavia, Italy.
Neurology Service, Hospital Mútua de Terrassa, Barcelona, Spain.
Department of Development and Regeneration, Section of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
Child Neuropsychiatry Unit-Epilepsy Center, San Paolo Hospital, Milan, Italy.
Department of Health Sciences, University of Milan, Milan, Italy.
Belfast Health and Social Care Trust, Belfast, United Kingdom.
Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Victoria, Australia.
Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, United Kingdom.
Chalfont Centre for Epilepsy, Chalfont-St-Peter, United Kingdom.
Institute of Genomic Medicine, Columbia University, New York, NY, USA.
Centre for Genomic Research, AstraZeneca, Cambridge, United Kingdom.

The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED‐induced BDs may result from a genome‐wide increase of de novo variants in the embryo, a mechanism that we investigated.

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