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Epilepsy & Behavior : E&B|February 23, 2024
Polygenic burden and its association with baseline cognitive function and postoperative cognitive outcome in temporal lobe epilepsyKayela Arrotta, Lisa Ferguson, Nicolas Thompson, et al.
Epilepsia|October 23, 2024
Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variantsLudovica Montanucci, Tobias Brünger, Christian M Boßelmann, et al.
Neurology|October 21, 2025
Insights Into <i>DEPDC5</i>-Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment OutcomesManuela Ochoa-Urrea, Elizabeth A Butler, Tobias Bruenger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis ComplexLaura S Farach, Costin Leu, Dennis Lal, et al.
Epilepsia|October 22, 2020
Polygenic risk heterogeneity among focal epilepsiesMarie Gramm, Costin Leu, Eduardo Pérez-Palma, et al.
Brain Communications|September 22, 2025
Polygenic scores contribution to Parkinson's disease comorbiditiesCarlos F Hernández, Camilo Villaman, Cristian Tejos, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2017
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, et al.
Plos One|April 29, 2020
Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general populationCostin Leu, Tom G Richardson, Tobias Kaufmann, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disordersCristiane Hsu, Alina Ivaniuk, Andres Jimenez-Gomez, et al.
Brain : a Journal of Neurology|March 14, 2020
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variantsJavier A López-Rivera, Eduardo Pérez-Palma, Joseph Symonds, et al.
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