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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 14, 2016
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalitiesSara Matricardi, Alberto Spalice, Vincenzo Salpietro, et al.
Epilepsia|March 15, 2006
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti, Antonio Gambardella, Laura Canafoglia, et al.
Epilepsia|December 31, 2024
Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burdenAlessandra Boncristiano, Simona Balestrini, Viola Doccini, et al.
Epilepsy Research|July 24, 2012
Reflex myoclonic epilepsy in infancy: a multicenter clinical studyAlberto Verrotti, Sara Matricardi, Giuseppe Capovilla, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Journal of Neurology|November 16, 2007
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian familiesPasquale Striano, Antonio Gambardella, Antonietta Coppola, et al.
The Journal of Pediatrics|September 3, 2013
Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndromeAlberto Verrotti, Raffaella Cusmai, Francesco Nicita, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|August 17, 2018
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized TherapyRobertino Dilena, Jacopo C DiFrancesco, Maria Virginia Soldovieri, et al.
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