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Maria Roberta Cilio

Showing results (61-70 of 71) with videos related to

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Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Pediatric Research|May 20, 2026
Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis ComplexSerena Pellegrin, Massimo Mastrangelo, Patrizia Accorsi, et al.
Epilepsia|November 23, 2024
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic strokeVeronica Pegoraro, Renaud Viellevoye, Geneviève Malfilatre, et al.
Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|September 1, 2023
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal SeizuresRonit M Pressler, Nicholas S Abend, Stéphan Auvin, et al.
Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Pediatric Research|May 20, 2026
Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis ComplexSerena Pellegrin, Massimo Mastrangelo, Patrizia Accorsi, et al.
Epilepsia|November 23, 2024
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic strokeVeronica Pegoraro, Renaud Viellevoye, Geneviève Malfilatre, et al.
Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|September 1, 2023
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal SeizuresRonit M Pressler, Nicholas S Abend, Stéphan Auvin, et al.
Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Pageof 8