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Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 12, 2021
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factorsAlessandro Orsini, Thomas Foiadelli, Mariasole Magistrali, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Pharmacogenomics|April 21, 2020
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association studyStefan Wolking, Herbert Schulz, Anne T Nies, et al.
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.
Pediatric Neurology|February 11, 2023
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional StudyIrene Toldo, Francesco Brunello, Paola Cavasin, et al.
Sleep Medicine|April 29, 2026
Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based studyAlessandro Ferretti, Giulia Bellone, Anteo Di Napoli, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
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