Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Elsa Rossignol

Showing results (31-40 of 55) with videos related to

Pageof 6
Sort By:
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Personalized Medicine|July 13, 2022
Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptionsMarie-Anne Pépin, Anne-Sophie Otis, Zoë Tremblay, et al.
Frontiers in Human Neuroscience|November 15, 2023
Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsyAlejandra M Hüsser, Phetsamone Vannasing, Julie Tremblay, et al.
Genes|August 26, 2023
The <i>ATP6V1B2</i> DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in MiceJustine Rousseau, Samuel Boris Tene Tadoum, Marisol Lavertu Jolin, et al.
Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.
Epilepsia|August 31, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndromeXiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, et al.
Human Molecular Genetics|October 19, 2018
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neuronsMattéa J Finelli, Davide Aprile, Enrico Castroflorio, et al.
Molecular Psychiatry|September 19, 2024
Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneuronsLara Eid, Ludmilla Lokmane, Praveen K Raju, et al.
Journal of Child Neurology|October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot StudyLaura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Personalized Medicine|July 13, 2022
Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptionsMarie-Anne Pépin, Anne-Sophie Otis, Zoë Tremblay, et al.
Frontiers in Human Neuroscience|November 15, 2023
Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsyAlejandra M Hüsser, Phetsamone Vannasing, Julie Tremblay, et al.
Genes|August 26, 2023
The <i>ATP6V1B2</i> DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in MiceJustine Rousseau, Samuel Boris Tene Tadoum, Marisol Lavertu Jolin, et al.
Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.
Epilepsia|August 31, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndromeXiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, et al.
Human Molecular Genetics|October 19, 2018
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neuronsMattéa J Finelli, Davide Aprile, Enrico Castroflorio, et al.
Molecular Psychiatry|September 19, 2024
Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneuronsLara Eid, Ludmilla Lokmane, Praveen K Raju, et al.
Journal of Child Neurology|October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot StudyLaura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Pageof 6