Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.

doi:10.1002/ana.25724

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Article

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.

Annals of neurology - 1 Jun 2020

Perucca Piero, Anderson Alison, Jazayeri Dana, Hitchcock Alison, Graham Janet, Todaro Marian, Tomson Torbjörn, Battino Dina, Perucca Emilio, Ferri Meritxell Martinez, Rochtus Anne, Lagae Lieven, Canevini Maria Paola, Zambrelli Elena, Campbell Ellen, Koeleman Bobby P C, Scheffer Ingrid E, Berkovic Samuel F, Kwan Patrick, Sisodiya Sanjay M, Goldstein David B, Petrovski Slavé, Craig John, Vajda Frank J E, O'Brien Terence J

Abstract excerpt

OBJECTIVE: 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. METHODS: Whole exome sequencing data from child-parent trios were interrogated for de novo single-nucleotide variants/indels (dnSNVs/indels) and de novo copy number variants...

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PMID: 32215971
DOI: 10.1002/ana.25724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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