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Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.Journal of the Neurological Sciences|March 27, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlationsAntonella Riva, Alessandro Orsini, Marcello Scala, et al.Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.Epilepsia|April 6, 2023
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myocloniaEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.Epilepsia Open|December 11, 2019
Genomic and clinical predictors of lacosamide response in refractory epilepsiesSinéad B Heavin, Mark McCormack, Stefan Wolking, et al.Epilepsia|October 29, 2022
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter studyEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.Pageof 68