Carla Marini
- Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021/08/25 by Katrine M. Johannesen, Katrine M Johannesen, Yuanyuan Liu +164 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Neurological disorders and treatments #Genetics and Neurodevelopmental Disorders
- The genetics of Dravet syndrome
2011/04/01 by Carla Marini, Ingrid E. Scheffer, Rima Nabbout +4 · 27 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Ion Transport and Channel Regulation #Pharmacological Effects and Toxicity Studies
- Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities
2007/06/11 by Carla Marini, Davide Mei, Teresa Temudo +18 · 24 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Glycogen Storage Diseases and Myoclonus
- Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study
2025/03/24 by Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto Caraballo +37 · 1 voice · 2 citations
Medicine · #Cannabis and Cannabinoid Research #Epilepsy research and treatment #Hemoglobinopathies and Related Disorders