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

Ingrid E Scheffer

Showing results (371-380 of 586) with videos related to

Pageof 59
Sort By:
Epilepsia|August 6, 2023
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trialJoseph Sullivan, Lieven Lagae, J Helen Cross, et al.
Annals of Clinical and Translational Neurology|May 18, 2021
Loss-of-function variants in K<sub>v</sub> 11.1 cardiac channels as a biomarker for SUDEPMing S Soh, Richard D Bagnall, Mark F Bennett, et al.
Brain : a Journal of Neurology|October 6, 2006
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutationsIngrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, et al.
Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.
Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Developmental Medicine and Child Neurology|March 21, 2022
Self-reported impact of developmental stuttering across the lifespanJessica O Boyce, Victoria E Jackson, Olivia van Reyk, et al.
Epilepsia|May 3, 2022
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and DefinitionsKate Riney, Alicia Bogacz, Ernest Somerville, et al.
Pageof 59

Showing results (371-380 of 586) with videos related to

Sort By:
Pageof 59
Epilepsia|August 6, 2023
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trialJoseph Sullivan, Lieven Lagae, J Helen Cross, et al.
Annals of Clinical and Translational Neurology|May 18, 2021
Loss-of-function variants in K<sub>v</sub> 11.1 cardiac channels as a biomarker for SUDEPMing S Soh, Richard D Bagnall, Mark F Bennett, et al.
Brain : a Journal of Neurology|October 6, 2006
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutationsIngrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, et al.
Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.
Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Developmental Medicine and Child Neurology|March 21, 2022
Self-reported impact of developmental stuttering across the lifespanJessica O Boyce, Victoria E Jackson, Olivia van Reyk, et al.
Epilepsia|May 3, 2022
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and DefinitionsKate Riney, Alicia Bogacz, Ernest Somerville, et al.
Pageof 59