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Brain Communications|July 15, 2026
Expanding the phenotypic and genotypic spectrum of <i>KCNT1</i>-related epilepsiesMathilde Gras, Gaelle Quentin-Romand, Nicole Chemaly, et al.Soins. Pediatrie, Puericulture|March 15, 2025
[Thinking about transcultural prenatal genetic counseling]Giulia Barcia, Sophie Monnot, Roxana Borghese, et al.Epilepsia Open|September 11, 2020
Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathyMathieu Kuchenbuch, Gianluca D'Onofrio, Nicole Chemaly, et al.Journal of Neurophysiology|July 7, 2021
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylationYalan Zhang, Syed R Ali, Rima Nabbout, et al.Brain & Development|August 10, 2010
Epilepsy and EEG paroxysmal abnormalities in autism spectrum disordersAntonia Parmeggiani, Giulia Barcia, Annio Posar, et al.Clinical Genetics|June 7, 2019
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?Laura Routier, Florine Verny, Giulia Barcia, et al.Epilepsia Open|February 20, 2025
GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisalGiovanna Scorrano, Giulia Barcia, Jérôme Champ, et al.Journal of Autism and Developmental Disorders|March 29, 2018
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?Caroline Demily, Gaétan Lesca, Alice Poisson, et al.Expert Review of Molecular Diagnostics|September 9, 2020
Improving post-natal detection of mitochondrial DNA mutationsGiulia Barcia, Zahra Assouline, Maryse Magen, et al.Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.Pageof 11