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Ingrid E Scheffer

Showing results (321-330 of 586) with videos related to

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Brain : a Journal of Neurology|April 21, 2010
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer, Anna Jansen, Daniela T Pilz, et al.
Nature Genetics|October 23, 2012
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsySarah E Heron, Katherine R Smith, Melanie Bahlo, et al.
Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Neurology|August 10, 2014
Genetics of epilepsy: The testimony of twins in the molecular eraLata Vadlamudi, Roger L Milne, Kate Lawrence, et al.
Epilepsy Research|October 1, 2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyJohn A Damiano, Saul A Mullen, Michael S Hildebrand, et al.
The New England Journal of Medicine|April 26, 2018
Parental Mosaicism in "De Novo" Epileptic EncephalopathiesCandace T Myers, Georgina Hollingsworth, Alison M Muir, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Epilepsia|March 12, 2025
Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndromeIngrid E Scheffer, Rima Nabbout, Lieven Lagae, et al.
EMBO Reports|March 27, 2014
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formationMartin Puskarjov, Patricia Seja, Sarah E Heron, et al.
Pageof 59

Showing results (321-330 of 586) with videos related to

Sort By:
Pageof 59
Brain : a Journal of Neurology|April 21, 2010
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer, Anna Jansen, Daniela T Pilz, et al.
Nature Genetics|October 23, 2012
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsySarah E Heron, Katherine R Smith, Melanie Bahlo, et al.
Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Neurology|August 10, 2014
Genetics of epilepsy: The testimony of twins in the molecular eraLata Vadlamudi, Roger L Milne, Kate Lawrence, et al.
Epilepsy Research|October 1, 2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyJohn A Damiano, Saul A Mullen, Michael S Hildebrand, et al.
The New England Journal of Medicine|April 26, 2018
Parental Mosaicism in "De Novo" Epileptic EncephalopathiesCandace T Myers, Georgina Hollingsworth, Alison M Muir, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Epilepsia|March 12, 2025
Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndromeIngrid E Scheffer, Rima Nabbout, Lieven Lagae, et al.
EMBO Reports|March 27, 2014
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formationMartin Puskarjov, Patricia Seja, Sarah E Heron, et al.
Pageof 59