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Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.Human Genetics|May 14, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, et al.Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.Pageof 8