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Ingrid E Scheffer

Showing results (431-440 of 586) with videos related to

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Annals of Neurology|October 28, 2015
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyMichael G Ricos, Bree L Hodgson, Tommaso Pippucci, et al.
American Journal of Human Genetics|July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic EpilepsyMichael S Hildebrand, Nicole G Griffin, John A Damiano, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.
Neurology|August 27, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrumYue-Hua Zhang, Rosemary Burgess, Jodie P Malone, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Pageof 59

Showing results (431-440 of 586) with videos related to

Sort By:
Pageof 59
Annals of Neurology|October 28, 2015
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyMichael G Ricos, Bree L Hodgson, Tommaso Pippucci, et al.
American Journal of Human Genetics|July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic EpilepsyMichael S Hildebrand, Nicole G Griffin, John A Damiano, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.
Neurology|August 27, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrumYue-Hua Zhang, Rosemary Burgess, Jodie P Malone, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Pageof 59