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Ingrid E Scheffer

Showing results (471-480 of 586) with videos related to

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Epilepsia|November 18, 2025
Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history studyJoseph Sullivan, M Scott Perry, Ingrid E Scheffer, et al.
Epilepsia|December 4, 2023
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history studyM Scott Perry, Ingrid E Scheffer, Joseph Sullivan, et al.
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Neurology|January 14, 2026
Transcription Factor Binding and Individual Genetic Risk of Valproate TeratogenicityAlison Anderson, Piero Perucca, Elena Vianca, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
Ebiomedicine|July 30, 2025
SUDEP risk is influenced by longevity genomics: a polygenic risk score studyHelena Martins, James D Mills, Susanna Pagni, et al.
Pageof 59

Showing results (471-480 of 586) with videos related to

Sort By:
Pageof 59
Epilepsia|November 18, 2025
Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history studyJoseph Sullivan, M Scott Perry, Ingrid E Scheffer, et al.
Epilepsia|December 4, 2023
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history studyM Scott Perry, Ingrid E Scheffer, Joseph Sullivan, et al.
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Neurology|January 14, 2026
Transcription Factor Binding and Individual Genetic Risk of Valproate TeratogenicityAlison Anderson, Piero Perucca, Elena Vianca, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
Ebiomedicine|July 30, 2025
SUDEP risk is influenced by longevity genomics: a polygenic risk score studyHelena Martins, James D Mills, Susanna Pagni, et al.
Pageof 59