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Journal of Molecular Medicine (Berlin, Germany)|August 20, 2013
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonismJose Felix Martí-Massó, Alberto Bergareche, Vladimir Makarov, et al.
Seizure|March 12, 2013
Epilepsy in patients with Cornelia de Lange syndrome: a clinical seriesAlberto Verrotti, Sergio Agostinelli, Giovanni Prezioso, et al.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
Epilepsy & Behavior : E&B|February 1, 2016
Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsyAntonietta Coppola, Carmela Caccavale, Lia Santulli, et al.
Epilepsia|March 2, 2013
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletionAntonietta Coppola, Irene Bagnasco, Monica Traverso, et al.
Epilepsia Open|February 25, 2026
Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerabilityGiovanni B Dell'Isola, Alice Muda, Lucio Giordano, et al.
Epilepsia|October 9, 2013
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort studyLucio Giordano, Aglaia Vignoli, Raffaella Cusmai, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 28, 2017
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case seriesAlberto Verrotti, Sara Casciato, Alberto Spalice, et al.
Epilepsia Open|September 19, 2024
A VAMS-based LC-MS/MS method for precise cenobamate quantification in epilepsy (patients)Federica Pigliasco, Alessia Cafaro, Sebastiano Barco, et al.
The Journal of Headache and Pain|September 3, 2014
Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrumentPasquale Parisi, Nicola Vanacore, Vincenzo Belcastro, et al.
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