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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  

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.

中文翻译:

抗癫痫药物致畸性和从头遗传变异负荷

抗癫痫药物 (AED) 导致出生缺陷 (BD) 的机制尚不清楚。数据表明,AED 诱导的 BDs 可能是由于胚胎中从头变异的全基因组增加所致,这是我们研究的一种机制。
更新日期:2020-04-15
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