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Elena Freri

Showing results (41-50 of 109) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2021
CDKL5 deficiency disorder in males: Five new variants and review of the literatureBarbara Siri, Costanza Varesio, Elena Freri, et al.
Journal of Child Neurology|May 7, 2015
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and PeculiaritiesSimona Binelli, Francesca Ragona, Laura Canafoglia, et al.
Seizure|October 2, 2020
SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonusLaura Canafoglia, Silvana Franceschetti, Tiziana Granata, et al.
American Journal of Medical Genetics. Part A|October 7, 2015
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical regionFrancesco Nicita, Giacomo Garone, Alberto Spalice, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Epilepsy Research|November 4, 2009
Hemispherotomy and functional hemispherectomy: indications and outcomeCarlo Efisio Marras, Tiziana Granata, Angelo Franzini, et al.
Frontiers in Pharmacology|June 30, 2022
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic PhenotypesIlaria Mosca, Ilaria Rivolta, Audrey Labalme, et al.
Frontiers in Cellular Neuroscience|February 10, 2025
Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genesIlaria Filareto, Ilaria Mosca, Elena Freri, et al.
Epilepsia Open|January 31, 2023
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypesBarbara Castellotti, Laura Canafoglia, Elena Freri, et al.
Journal of Neurology|March 22, 2019
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypesBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Pageof 11

Showing results (41-50 of 109) with videos related to

Sort By:
Pageof 11
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2021
CDKL5 deficiency disorder in males: Five new variants and review of the literatureBarbara Siri, Costanza Varesio, Elena Freri, et al.
Journal of Child Neurology|May 7, 2015
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and PeculiaritiesSimona Binelli, Francesca Ragona, Laura Canafoglia, et al.
Seizure|October 2, 2020
SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonusLaura Canafoglia, Silvana Franceschetti, Tiziana Granata, et al.
American Journal of Medical Genetics. Part A|October 7, 2015
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical regionFrancesco Nicita, Giacomo Garone, Alberto Spalice, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Epilepsy Research|November 4, 2009
Hemispherotomy and functional hemispherectomy: indications and outcomeCarlo Efisio Marras, Tiziana Granata, Angelo Franzini, et al.
Frontiers in Pharmacology|June 30, 2022
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic PhenotypesIlaria Mosca, Ilaria Rivolta, Audrey Labalme, et al.
Frontiers in Cellular Neuroscience|February 10, 2025
Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genesIlaria Filareto, Ilaria Mosca, Elena Freri, et al.
Epilepsia Open|January 31, 2023
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypesBarbara Castellotti, Laura Canafoglia, Elena Freri, et al.
Journal of Neurology|March 22, 2019
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypesBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Pageof 11