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D Symonds

Showing results (31-40 of 47) with videos related to

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Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Brain : a Journal of Neurology|October 23, 2021
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinantsJoseph D Symonds, Katherine S Elliott, Jay Shetty, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Neurology|July 22, 2020
Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohortJoseph D Symonds, Teresa C Moloney, Bethan Lang, et al.
Brain : a Journal of Neurology|July 15, 2019
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohortJoseph D Symonds, Sameer M Zuberi, Kirsty Stewart, 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|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
The Journal of Clinical Investigation|August 2, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signalingGuodong Chen, Bin Yu, Senwei Tan, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Brain : a Journal of Neurology|October 23, 2021
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinantsJoseph D Symonds, Katherine S Elliott, Jay Shetty, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Neurology|July 22, 2020
Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohortJoseph D Symonds, Teresa C Moloney, Bethan Lang, et al.
Brain : a Journal of Neurology|July 15, 2019
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohortJoseph D Symonds, Sameer M Zuberi, Kirsty Stewart, 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|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
The Journal of Clinical Investigation|August 2, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signalingGuodong Chen, Bin Yu, Senwei Tan, et al.
Pageof 5