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Epilepsia|July 20, 2007
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsyFerdinanda Annesi, Antonio Gambardella, Roberto Michelucci, et al.
Epilepsia|September 1, 2017
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosisGanna Androsova, Roland Krause, Mojgansadat Borghei, et al.
Annals of Clinical and Translational Neurology|May 21, 2021
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsyStefan Wolking, Claudia Moreau, Mark McCormack, et al.
Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Pediatric Neurology|October 11, 2023
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in ChildrenGiovanna Scorrano, Gianluca D'Onofrio, Andrea Accogli, et al.
Epilepsia|July 11, 2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano, Maria Luisa Lispi, Elena Gennaro, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
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