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Elena Parrini

Showing results (21-30 of 82) with videos related to

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Epileptic Disorders : International Epilepsy Journal with Videotape|September 29, 2021
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndromeRoberta Solazzi, Elena Fiorini, Elena Parrini, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in malesElena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2020
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathyGaetano Terrone, Michele Pinelli, Pia Bernardo, et al.
American Journal of Medical Genetics. Part A|May 19, 2021
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 geneSara Brunetti, Laura Malerba, Lucio Giordano, et al.
Epilepsia|October 24, 2006
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigreeElena Gardella, Paolo Tinuper, Carla Marini, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutationDalila De Vita, Davide Mei, Domenico Rutigliano, et al.
Epilepsia|October 1, 2014
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boysDavide Mei, Francesca Darra, Carmen Barba, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset casesMichela Stagnaro, Livia Pisciotta, Marcella Gherzi, et al.
European Journal of Medical Genetics|May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologistsAmy McTague, Andreas Brunklaus, Giulia Barcia, et al.
Epilepsia Open|October 8, 2023
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variantsNorman Panza, Claudia Bianchini, Valentina Cetica, et al.
Pageof 9

Showing results (21-30 of 82) with videos related to

Sort By:
Pageof 9
Epileptic Disorders : International Epilepsy Journal with Videotape|September 29, 2021
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndromeRoberta Solazzi, Elena Fiorini, Elena Parrini, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in malesElena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2020
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathyGaetano Terrone, Michele Pinelli, Pia Bernardo, et al.
American Journal of Medical Genetics. Part A|May 19, 2021
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 geneSara Brunetti, Laura Malerba, Lucio Giordano, et al.
Epilepsia|October 24, 2006
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigreeElena Gardella, Paolo Tinuper, Carla Marini, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutationDalila De Vita, Davide Mei, Domenico Rutigliano, et al.
Epilepsia|October 1, 2014
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boysDavide Mei, Francesca Darra, Carmen Barba, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset casesMichela Stagnaro, Livia Pisciotta, Marcella Gherzi, et al.
European Journal of Medical Genetics|May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologistsAmy McTague, Andreas Brunklaus, Giulia Barcia, et al.
Epilepsia Open|October 8, 2023
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variantsNorman Panza, Claudia Bianchini, Valentina Cetica, et al.
Pageof 9