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Objective
Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis. We aimed to refine the phenotype of FMTLE by analyzing a large cohort of patients and asked whether common...
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...
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