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Helena Martins Custodio

Showing results (1-10 of 10) with videos related to

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Human Molecular Genetics|January 30, 2023
SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regionsSusanna Pagni, Helena Martins Custodio, Adam Frankish, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 26, 2023
Risk-conferring <i>HLA</i> variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practiceAngeliki Vakrinou, Ravishankara Bellampalli, Medine I Gulcebi, et al.
Epilepsia Open|July 16, 2021
Late diagnoses of Dravet syndrome: How many individuals are we missing?Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, et al.
Brain Communications|September 11, 2024
The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsyOlivia C McNicholas, Diego Jiménez-Jiménez, Joana F A Oliveira, et al.
Brain : a Journal of Neurology|April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' conditionHelena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology|July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic StudyVera Braatz, Helena Martins Custodio, Costin Leu, et al.
Nature Communications|March 10, 2026
Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical laminationHaw-Yuan Cheng, Chen Liu, Chiao-Wen Nien, et al.
Acta Neuropathologica|May 13, 2022
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibilityKatri Silvennoinen, Kinga Gawel, Despina Tsortouktzidis, et al.
Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Human Molecular Genetics|January 30, 2023
SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regionsSusanna Pagni, Helena Martins Custodio, Adam Frankish, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 26, 2023
Risk-conferring <i>HLA</i> variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practiceAngeliki Vakrinou, Ravishankara Bellampalli, Medine I Gulcebi, et al.
Epilepsia Open|July 16, 2021
Late diagnoses of Dravet syndrome: How many individuals are we missing?Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, et al.
Brain Communications|September 11, 2024
The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsyOlivia C McNicholas, Diego Jiménez-Jiménez, Joana F A Oliveira, et al.
Brain : a Journal of Neurology|April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' conditionHelena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology|July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic StudyVera Braatz, Helena Martins Custodio, Costin Leu, et al.
Nature Communications|March 10, 2026
Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical laminationHaw-Yuan Cheng, Chen Liu, Chiao-Wen Nien, et al.
Acta Neuropathologica|May 13, 2022
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibilityKatri Silvennoinen, Kinga Gawel, Despina Tsortouktzidis, et al.
Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Pageof 1