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Ingrid E Scheffer

Showing results (361-370 of 586) with videos related to

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Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersRose White, Gladys Ho, Swetlana Schmidt, et al.
Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
Cell Reports|December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationAdam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Epilepsy Research|January 9, 2021
Contribution of rare genetic variants to drug response in absence epilepsyKenneth A Myers, Mark F Bennett, Bronwyn E Grinton, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Pageof 59

Showing results (361-370 of 586) with videos related to

Sort By:
Pageof 59
Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersRose White, Gladys Ho, Swetlana Schmidt, et al.
Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
Cell Reports|December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationAdam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Epilepsy Research|January 9, 2021
Contribution of rare genetic variants to drug response in absence epilepsyKenneth A Myers, Mark F Bennett, Bronwyn E Grinton, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Pageof 59