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Katherine B Howell

Showing results (41-50 of 65) with videos related to

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Brain Communications|July 3, 2026
Late-onset epileptic spasms: presentation, aetiology and outcomeSameer Dal, Emma Macdonald-Laurs, Simone Mandelstam, et al.
Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Neurology|September 2, 2018
The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Pageof 7

Showing results (41-50 of 65) with videos related to

Sort By:
Pageof 7
Brain Communications|July 3, 2026
Late-onset epileptic spasms: presentation, aetiology and outcomeSameer Dal, Emma Macdonald-Laurs, Simone Mandelstam, et al.
Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Neurology|September 2, 2018
The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Pageof 7