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Katherine B Howell

Showing results (21-30 of 65) with videos related to

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Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Neurology|November 2, 2022
Complications of Influenza A or B Virus Infection in Individuals With <i>SCN1A</i>-Positive Dravet SyndromeKatherine B Howell, Sophie Butcher, Amy L Schneider, et al.
Epilepsia|May 12, 2018
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyKatherine B Howell, Stefanie Eggers, Kim Dalziel, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIAWei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.
Communications Biology|May 31, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variantsGéza Berecki, Katherine B Howell, Jacqueline Heighway, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, 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.
Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.
Pageof 7

Showing results (21-30 of 65) with videos related to

Sort By:
Pageof 7
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Neurology|November 2, 2022
Complications of Influenza A or B Virus Infection in Individuals With <i>SCN1A</i>-Positive Dravet SyndromeKatherine B Howell, Sophie Butcher, Amy L Schneider, et al.
Epilepsia|May 12, 2018
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyKatherine B Howell, Stefanie Eggers, Kim Dalziel, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIAWei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.
Communications Biology|May 31, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variantsGéza Berecki, Katherine B Howell, Jacqueline Heighway, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, 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.
Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.
Pageof 7