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Ingrid E Scheffer

Showing results (381-390 of 586) with videos related to

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Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.
JAMA Neurology|May 2, 2022
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical TrialKelly G Knupp, Ingrid E Scheffer, Berten Ceulemans, et al.
Epilepsia|May 3, 2022
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and DefinitionsNicola Specchio, Elaine C Wirrell, Ingrid E Scheffer, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Epilepsia|August 12, 2017
How long for epilepsy remission in the ILAE definition?Robert S Fisher, Carlos Acevedo, Alexis Arzimanoglou, et al.
Epilepsia|August 27, 2004
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12Samuel F Berkovic, Jose M Serratosa, Hilary A Phillips, et al.
Epilepsia|July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeJohn C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
Human Mutation|October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsyMelody Li, Snezana Maljevic, A Marie Phillips, et al.
European Journal of Human Genetics : EJHG|November 25, 2025
Identification of an episignature for the MEF2C-associated syndromeAnanília Silva, Sadegheh Haghshenas, Liselot van der Laan, et al.
Neurology|April 25, 2020
Keeping people with epilepsy safe during the COVID-19 pandemicJacqueline A French, Martin J Brodie, Roberto Caraballo, et al.
Pageof 59

Showing results (381-390 of 586) with videos related to

Sort By:
Pageof 59
Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.
JAMA Neurology|May 2, 2022
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical TrialKelly G Knupp, Ingrid E Scheffer, Berten Ceulemans, et al.
Epilepsia|May 3, 2022
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and DefinitionsNicola Specchio, Elaine C Wirrell, Ingrid E Scheffer, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Epilepsia|August 12, 2017
How long for epilepsy remission in the ILAE definition?Robert S Fisher, Carlos Acevedo, Alexis Arzimanoglou, et al.
Epilepsia|August 27, 2004
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12Samuel F Berkovic, Jose M Serratosa, Hilary A Phillips, et al.
Epilepsia|July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeJohn C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
Human Mutation|October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsyMelody Li, Snezana Maljevic, A Marie Phillips, et al.
European Journal of Human Genetics : EJHG|November 25, 2025
Identification of an episignature for the MEF2C-associated syndromeAnanília Silva, Sadegheh Haghshenas, Liselot van der Laan, et al.
Neurology|April 25, 2020
Keeping people with epilepsy safe during the COVID-19 pandemicJacqueline A French, Martin J Brodie, Roberto Caraballo, et al.
Pageof 59