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Showing results (181-190 of 270) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Nature Neuroscience|August 12, 2025
Cross-species analysis of adult hippocampal neurogenesis reveals human-specific gene expression but convergent biological processesYi Zhou, Yijing Su, Qian Yang, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Pageof 27

Showing results (181-190 of 270) with videos related to

Sort By:
Pageof 27
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Nature Neuroscience|August 12, 2025
Cross-species analysis of adult hippocampal neurogenesis reveals human-specific gene expression but convergent biological processesYi Zhou, Yijing Su, Qian Yang, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Pageof 27