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Ingrid E Scheffer

Showing results (531-540 of 586) with videos related to

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Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Nature|August 13, 2013
De novo mutations in epileptic encephalopathies, , Andrew S Allen, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Pageof 59

Showing results (531-540 of 586) with videos related to

Sort By:
Pageof 59
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Nature|August 13, 2013
De novo mutations in epileptic encephalopathies, , Andrew S Allen, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Pageof 59