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Eric D Marsh

Showing results (141-150 of 156) with videos related to

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Journal of Neurodevelopmental Disorders|September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorderHeather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Pediatric Neurology|June 1, 2019
Severity Assessment in CDKL5 Deficiency DisorderScott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Journal of Neurodevelopmental Disorders|May 15, 2022
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history studyCaroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, et al.
American Journal of Human Genetics|September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Brain : a Journal of Neurology|June 5, 2025
The genetic and phenotypic spectrum of GABRB1-related disordersCharissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, et al.
Pageof 16

Showing results (141-150 of 156) with videos related to

Sort By:
Pageof 16
Journal of Neurodevelopmental Disorders|September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorderHeather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Pediatric Neurology|June 1, 2019
Severity Assessment in CDKL5 Deficiency DisorderScott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Journal of Neurodevelopmental Disorders|May 15, 2022
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history studyCaroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, et al.
American Journal of Human Genetics|September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Brain : a Journal of Neurology|June 5, 2025
The genetic and phenotypic spectrum of GABRB1-related disordersCharissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, et al.
Pageof 16