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

Poduri

Showing results (291-300 of 353) with videos related to

Pageof 36
Sort By:
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Brain : a Journal of Neurology|April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformationsDulcie Lai, Meethila Gade, Edward Yang, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 13, 2022
Current practice in diagnostic genetic testing of the epilepsiesIlona Krey, Konrad Platzer, Alina Esterhuizen, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Pageof 36

Showing results (291-300 of 353) with videos related to

Sort By:
Pageof 36
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Brain : a Journal of Neurology|April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformationsDulcie Lai, Meethila Gade, Edward Yang, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 13, 2022
Current practice in diagnostic genetic testing of the epilepsiesIlona Krey, Konrad Platzer, Alina Esterhuizen, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Pageof 36