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Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|November 29, 2022
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGADMargherita Nosadini, Michael Eyre, Thea Giacomini, 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.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Biorxiv : the Preprint Server for Biology|November 14, 2023
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy studyRebecca Kerestes, Andrew Perry, Lucy Vivash, et al.
Epilepsia|February 27, 2024
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy studyRebecca Kerestes, Andrew Perry, Lucy Vivash, et al.
European Journal of Human Genetics : EJHG|June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.
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