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Renzo Guerrini

Showing results (531-540 of 611) with videos related to

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American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Epilepsia|October 21, 2016
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre studyMarilena Vecchi, Carmen Barba, Debora De Carlo, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Frontiers in Neurology|June 7, 2021
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut SyndromeLuigi Francesco Iannone, Gabriele Arena, Domenica Battaglia, et al.
Epilepsia|December 27, 2019
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variationCarmen Barba, Judith Helen Cross, Kees Braun, et al.
American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Pageof 62

Showing results (531-540 of 611) with videos related to

Sort By:
Pageof 62
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Epilepsia|October 21, 2016
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre studyMarilena Vecchi, Carmen Barba, Debora De Carlo, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Frontiers in Neurology|June 7, 2021
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut SyndromeLuigi Francesco Iannone, Gabriele Arena, Domenica Battaglia, et al.
Epilepsia|December 27, 2019
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variationCarmen Barba, Judith Helen Cross, Kees Braun, et al.
American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Pageof 62