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Translational Psychiatry
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January 18, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
Matteo Lenge, Simona Balestrini, Antonio Napolitano, et al.
Epilepsia
|
January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy
Noor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsy Research
|
December 12, 2023
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase
Anna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, et al.
Epilepsia
|
September 18, 2020
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study
Nicola Specchio, Nicola Pietrafusa, Viola Doccini, et al.
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Epilepsia
|
June 15, 2007
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
Carla Marini, Davide Mei, Teresa Temudo, et al.
Human Mutation
|
November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
Elena Parrini, Carla Marini, Davide Mei, et al.
Neurology
|
February 17, 2017
Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations
Valentina Cetica, Sara Chiari, Davide Mei, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy
Beatrice De Maria, Simona Balestrini, Davide Mei, et al.
Plos Genetics
|
November 30, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, et al.
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of 11
Search research articles
Search
Showing results (51-60 of 110) with videos related to
Sort By:
Page
of 11
Translational Psychiatry
|
January 18, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
Matteo Lenge, Simona Balestrini, Antonio Napolitano, et al.
Epilepsia
|
January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy
Noor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsy Research
|
December 12, 2023
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase
Anna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, et al.
Epilepsia
|
September 18, 2020
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study
Nicola Specchio, Nicola Pietrafusa, Viola Doccini, et al.
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Epilepsia
|
June 15, 2007
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
Carla Marini, Davide Mei, Teresa Temudo, et al.
Human Mutation
|
November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
Elena Parrini, Carla Marini, Davide Mei, et al.
Neurology
|
February 17, 2017
Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations
Valentina Cetica, Sara Chiari, Davide Mei, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy
Beatrice De Maria, Simona Balestrini, Davide Mei, et al.
Plos Genetics
|
November 30, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, et al.
Page
of 11