Patat Olivier

2PUBLICATIONS
89CO-AUTHORS
Neurology and neuromuscular diseasesCell and nuclear division
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (2)

Sort by Publication Date:
|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Nov 09, 2024
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.

Lodin-Pasquier Magalie, Capri Yline, Patat Olivier

Pageof 1

Frequent Collaborators

1 joint publications

Elsa Leitão

1 joint publications

Amandine Santini

1 joint publications

Benjamin Cogne

1 joint publications

Miriam Essid

1 joint publications

Maria Athanasiadou

1 joint publications

Christy W LaFlamme

1 joint publications

Pierre Marijon

1 joint publications

Nicolas Chatron

1 joint publications

Thomas Besnard

1 joint publications

Robin Paluch

Frequent Collaborators

1 joint publications

Elsa Leitão

1 joint publications

Amandine Santini

1 joint publications

Benjamin Cogne

1 joint publications

Miriam Essid

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
Jove
Visualize
Contact Us

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

9.2K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
See more related videos

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

9.2K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
See more related videos