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Epilepsia Open|March 20, 2023
A registry for Dravet syndrome: The Italian experienceSimona Balestrini, Viola Doccini, Sabrina Giometto, 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|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, 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.
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
Epilepsia|October 21, 2016
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre studyMarilena Vecchi, Carmen Barba, Debora De Carlo, et al.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
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